SNP Links for Protein (Select 1034641880) - SNP

Select item 14811364421.

rs1481136442 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:88095557 (GRCh38)
4:89016709 (GRCh37)
Canonical SPDI:: NC_000004.12:88095556:C:T
Gene:: ABCG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000045/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.88095557C>T, NC_000004.11:g.89016709C>T, NG_032067.2:g.140766G>A, NM_004827.3:c.1700G>A, NM_004827.2:c.1700G>A, NM_001257386.2:c.1690G>A, NM_001257386.1:c.1690G>A, NM_001348989.2:c.1700G>A, NM_001348989.1:c.1700G>A, NM_001348985.1:c.1700G>A, NM_001348988.1:c.1700G>A, NM_001348987.1:c.1694G>A, NM_001348986.1:c.1700G>A, XM_011532420.4:c.1700G>A, XM_011532420.3:c.1700G>A, XM_011532420.2:c.1700G>A, XM_011532420.1:c.1700G>A, XM_017008852.3:c.1694G>A, XM_017008852.2:c.1694G>A, XM_017008852.1:c.1694G>A, NP_004818.2:p.Trp567Ter, NP_001244315.1:p.Gly564Ser, NP_001335918.1:p.Trp567Ter, NP_001335914.1:p.Trp567Ter, NP_001335917.1:p.Trp567Ter, NP_001335916.1:p.Trp565Ter, NP_001335915.1:p.Trp567Ter, XP_011530722.1:p.Trp567Ter, XP_016864341.1:p.Trp565Ter

Select item 14801560552.

rs1480156055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:88092368 (GRCh38)
4:89013520 (GRCh37)
Canonical SPDI:: NC_000004.12:88092367:C:A,NC_000004.12:88092367:C:T
Gene:: ABCG2 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.88092368C>A, NC_000004.12:g.88092368C>T, NC_000004.11:g.89013520C>A, NC_000004.11:g.89013520C>T, NG_032067.2:g.143955G>T, NG_032067.2:g.143955G>A, NM_004827.3:c.1834G>T, NM_004827.3:c.1834G>A, NM_004827.2:c.1834G>T, NM_004827.2:c.1834G>A, NM_001257386.2:c.1824G>T, NM_001257386.2:c.1824G>A, NM_001257386.1:c.1824G>T, NM_001257386.1:c.1824G>A, NM_001348989.2:c.1834G>T, NM_001348989.2:c.1834G>A, NM_001348989.1:c.1834G>T, NM_001348989.1:c.1834G>A, NM_001348985.1:c.1834G>T, NM_001348985.1:c.1834G>A, NM_001348988.1:c.1834G>T, NM_001348988.1:c.1834G>A, NM_001348987.1:c.1828G>T, NM_001348987.1:c.1828G>A, NM_001348986.1:c.1834G>T, NM_001348986.1:c.1834G>A, XM_011532420.4:c.1834G>T, XM_011532420.4:c.1834G>A, XM_011532420.3:c.1834G>T, XM_011532420.3:c.1834G>A, XM_011532420.2:c.1834G>T, XM_011532420.2:c.1834G>A, XM_011532420.1:c.1834G>T, XM_011532420.1:c.1834G>A, XM_017008852.3:c.1828G>T, XM_017008852.3:c.1828G>A, XM_017008852.2:c.1828G>T, XM_017008852.2:c.1828G>A, XM_017008852.1:c.1828G>T, XM_017008852.1:c.1828G>A, NP_004818.2:p.Glu612Ter, NP_004818.2:p.Glu612Lys, NP_001244315.1:p.Lys608Asn, NP_001335918.1:p.Glu612Ter, NP_001335918.1:p.Glu612Lys, NP_001335914.1:p.Glu612Ter, NP_001335914.1:p.Glu612Lys, NP_001335917.1:p.Glu612Ter, NP_001335917.1:p.Glu612Lys, NP_001335916.1:p.Glu610Ter, NP_001335916.1:p.Glu610Lys, NP_001335915.1:p.Glu612Ter, NP_001335915.1:p.Glu612Lys, XP_011530722.1:p.Glu612Ter, XP_011530722.1:p.Glu612Lys, XP_016864341.1:p.Glu610Ter, XP_016864341.1:p.Glu610Lys

Select item 14783434463.

rs1478343446 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:88107235 (GRCh38)
4:89028387 (GRCh37)
Canonical SPDI:: NC_000004.12:88107234:A:G
Gene:: ABCG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.88107235A>G, NC_000004.11:g.89028387A>G, NG_032067.2:g.129088T>C, NM_004827.3:c.1226T>C, NM_004827.2:c.1226T>C, NM_001257386.2:c.1226T>C, NM_001257386.1:c.1226T>C, NM_001348989.2:c.1226T>C, NM_001348989.1:c.1226T>C, NM_001348985.1:c.1226T>C, NM_001348988.1:c.1226T>C, NM_001348987.1:c.1220T>C, NM_001348986.1:c.1226T>C, XM_011532420.4:c.1226T>C, XM_011532420.3:c.1226T>C, XM_011532420.2:c.1226T>C, XM_011532420.1:c.1226T>C, XM_017008852.3:c.1220T>C, XM_017008852.2:c.1220T>C, XM_017008852.1:c.1220T>C, NP_004818.2:p.Ile409Thr, NP_001244315.1:p.Ile409Thr, NP_001335918.1:p.Ile409Thr, NP_001335914.1:p.Ile409Thr, NP_001335917.1:p.Ile409Thr, NP_001335916.1:p.Ile407Thr, NP_001335915.1:p.Ile409Thr, XP_011530722.1:p.Ile409Thr, XP_016864341.1:p.Ile407Thr

Select item 14770283304.

rs1477028330 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:88113496 (GRCh38)
4:89034648 (GRCh37)
Canonical SPDI:: NC_000004.12:88113495:T:C
Gene:: ABCG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.88113496T>C, NC_000004.11:g.89034648T>C, NG_032067.2:g.122827A>G, NM_004827.3:c.1001A>G, NM_004827.2:c.1001A>G, NM_001257386.2:c.1001A>G, NM_001257386.1:c.1001A>G, NM_001348989.2:c.1001A>G, NM_001348989.1:c.1001A>G, NM_001348985.1:c.1001A>G, NM_001348988.1:c.1001A>G, NM_001348987.1:c.995A>G, NM_001348986.1:c.1001A>G, XM_011532420.4:c.1001A>G, XM_011532420.3:c.1001A>G, XM_011532420.2:c.1001A>G, XM_011532420.1:c.1001A>G, XM_017008852.3:c.995A>G, XM_017008852.2:c.995A>G, XM_017008852.1:c.995A>G, NP_004818.2:p.Glu334Gly, NP_001244315.1:p.Glu334Gly, NP_001335918.1:p.Glu334Gly, NP_001335914.1:p.Glu334Gly, NP_001335917.1:p.Glu334Gly, NP_001335916.1:p.Glu332Gly, NP_001335915.1:p.Glu334Gly, XP_011530722.1:p.Glu334Gly, XP_016864341.1:p.Glu332Gly

Select item 14751358215.

rs1475135821 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:88131064 (GRCh38)
4:89052216 (GRCh37)
Canonical SPDI:: NC_000004.12:88131063:G:C,NC_000004.12:88131063:G:T
Gene:: ABCG2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.88131064G>C, NC_000004.12:g.88131064G>T, NC_000004.11:g.89052216G>C, NC_000004.11:g.89052216G>T, NG_032067.2:g.105259C>G, NG_032067.2:g.105259C>A, NM_004827.3:c.528C>G, NM_004827.3:c.528C>A, NM_004827.2:c.528C>G, NM_004827.2:c.528C>A, NM_001257386.2:c.528C>G, NM_001257386.2:c.528C>A, NM_001257386.1:c.528C>G, NM_001257386.1:c.528C>A, NM_001348989.2:c.528C>G, NM_001348989.2:c.528C>A, NM_001348989.1:c.528C>G, NM_001348989.1:c.528C>A, NM_001348985.1:c.528C>G, NM_001348985.1:c.528C>A, NM_001348988.1:c.528C>G, NM_001348988.1:c.528C>A, NM_001348987.1:c.528C>G, NM_001348987.1:c.528C>A, NM_001348986.1:c.528C>G, NM_001348986.1:c.528C>A, XM_011532420.4:c.528C>G, XM_011532420.4:c.528C>A, XM_011532420.3:c.528C>G, XM_011532420.3:c.528C>A, XM_011532420.2:c.528C>G, XM_011532420.2:c.528C>A, XM_011532420.1:c.528C>G, XM_011532420.1:c.528C>A, XM_017008852.3:c.528C>G, XM_017008852.3:c.528C>A, XM_017008852.2:c.528C>G, XM_017008852.2:c.528C>A, XM_017008852.1:c.528C>G, XM_017008852.1:c.528C>A

Select item 14722148366.

rs1472214836 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:88113421 (GRCh38)
4:89034573 (GRCh37)
Canonical SPDI:: NC_000004.12:88113420:T:C
Gene:: ABCG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000045/2 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.88113421T>C, NC_000004.11:g.89034573T>C, NG_032067.2:g.122902A>G, NM_004827.3:c.1076A>G, NM_004827.2:c.1076A>G, NM_001257386.2:c.1076A>G, NM_001257386.1:c.1076A>G, NM_001348989.2:c.1076A>G, NM_001348989.1:c.1076A>G, NM_001348985.1:c.1076A>G, NM_001348988.1:c.1076A>G, NM_001348987.1:c.1070A>G, NM_001348986.1:c.1076A>G, XM_011532420.4:c.1076A>G, XM_011532420.3:c.1076A>G, XM_011532420.2:c.1076A>G, XM_011532420.1:c.1076A>G, XM_017008852.3:c.1070A>G, XM_017008852.2:c.1070A>G, XM_017008852.1:c.1070A>G, NP_004818.2:p.Lys359Arg, NP_001244315.1:p.Lys359Arg, NP_001335918.1:p.Lys359Arg, NP_001335914.1:p.Lys359Arg, NP_001335917.1:p.Lys359Arg, NP_001335916.1:p.Lys357Arg, NP_001335915.1:p.Lys359Arg, XP_011530722.1:p.Lys359Arg, XP_016864341.1:p.Lys357Arg

Select item 14721948997.

rs1472194899 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:88114980 (GRCh38)
4:89036132 (GRCh37)
Canonical SPDI:: NC_000004.12:88114979:A:G
Gene:: ABCG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.88114980A>G, NC_000004.11:g.89036132A>G, NG_032067.2:g.121343T>C, NM_004827.3:c.920T>C, NM_004827.2:c.920T>C, NM_001257386.2:c.920T>C, NM_001257386.1:c.920T>C, NM_001348989.2:c.920T>C, NM_001348989.1:c.920T>C, NM_001348985.1:c.920T>C, NM_001348988.1:c.920T>C, NM_001348987.1:c.920T>C, NM_001348986.1:c.920T>C, XM_011532420.4:c.920T>C, XM_011532420.3:c.920T>C, XM_011532420.2:c.920T>C, XM_011532420.1:c.920T>C, XM_017008852.3:c.920T>C, XM_017008852.2:c.920T>C, XM_017008852.1:c.920T>C, NP_004818.2:p.Leu307Ser, NP_001244315.1:p.Leu307Ser, NP_001335918.1:p.Leu307Ser, NP_001335914.1:p.Leu307Ser, NP_001335917.1:p.Leu307Ser, NP_001335916.1:p.Leu307Ser, NP_001335915.1:p.Leu307Ser, XP_011530722.1:p.Leu307Ser, XP_016864341.1:p.Leu307Ser

Select item 14718891098.

rs1471889109 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:88115030 (GRCh38)
4:89036182 (GRCh37)
Canonical SPDI:: NC_000004.12:88115029:A:G
Gene:: ABCG2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.88115030A>G, NC_000004.11:g.89036182A>G, NG_032067.2:g.121293T>C, NM_004827.3:c.870T>C, NM_004827.2:c.870T>C, NM_001257386.2:c.870T>C, NM_001257386.1:c.870T>C, NM_001348989.2:c.870T>C, NM_001348989.1:c.870T>C, NM_001348985.1:c.870T>C, NM_001348988.1:c.870T>C, NM_001348987.1:c.870T>C, NM_001348986.1:c.870T>C, XM_011532420.4:c.870T>C, XM_011532420.3:c.870T>C, XM_011532420.2:c.870T>C, XM_011532420.1:c.870T>C, XM_017008852.3:c.870T>C, XM_017008852.2:c.870T>C, XM_017008852.1:c.870T>C

Select item 14715192949.

rs1471519294 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 4:88095574 (GRCh38)
4:89016726 (GRCh37)
Canonical SPDI:: NC_000004.12:88095573:AA:A
Gene:: ABCG2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.88095575del, NC_000004.11:g.89016727del, NG_032067.2:g.140749del, NM_004827.3:c.1683del, NM_004827.2:c.1683del, NM_001257386.2:c.1673del, NM_001257386.1:c.1673del, NM_001348989.2:c.1683del, NM_001348989.1:c.1683del, NM_001348985.1:c.1683del, NM_001348988.1:c.1683del, NM_001348987.1:c.1677del, NM_001348986.1:c.1683del, XM_011532420.4:c.1683del, XM_011532420.3:c.1683del, XM_011532420.2:c.1683del, XM_011532420.1:c.1683del, XM_017008852.3:c.1677del, XM_017008852.2:c.1677del, XM_017008852.1:c.1677del, NP_004818.2:p.Ile561fs, NP_001244315.1:p.Leu558fs, NP_001335918.1:p.Ile561fs, NP_001335914.1:p.Ile561fs, NP_001335917.1:p.Ile561fs, NP_001335916.1:p.Ile559fs, NP_001335915.1:p.Ile561fs, XP_011530722.1:p.Ile561fs, XP_016864341.1:p.Ile559fs

Select item 147115315910.

rs1471153159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:88121667 (GRCh38)
4:89042819 (GRCh37)
Canonical SPDI:: NC_000004.12:88121666:G:A
Gene:: ABCG2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.88121667G>A, NC_000004.11:g.89042819G>A, NG_032067.2:g.114656C>T, NM_004827.3:c.657C>T, NM_004827.2:c.657C>T, NM_001257386.2:c.657C>T, NM_001257386.1:c.657C>T, NM_001348989.2:c.657C>T, NM_001348989.1:c.657C>T, NM_001348985.1:c.657C>T, NM_001348988.1:c.657C>T, NM_001348987.1:c.657C>T, NM_001348986.1:c.657C>T, XM_011532420.4:c.657C>T, XM_011532420.3:c.657C>T, XM_011532420.2:c.657C>T, XM_011532420.1:c.657C>T, XM_017008852.3:c.657C>T, XM_017008852.2:c.657C>T, XM_017008852.1:c.657C>T

Select item 146897319111.

rs1468973191 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:88118156 (GRCh38)
4:89039308 (GRCh37)
Canonical SPDI:: NC_000004.12:88118155:A:G
Gene:: ABCG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.88118156A>G, NC_000004.11:g.89039308A>G, NG_032067.2:g.118167T>C, NM_004827.3:c.794T>C, NM_004827.2:c.794T>C, NM_001257386.2:c.794T>C, NM_001257386.1:c.794T>C, NM_001348989.2:c.794T>C, NM_001348989.1:c.794T>C, NM_001348985.1:c.794T>C, NM_001348988.1:c.794T>C, NM_001348987.1:c.794T>C, NM_001348986.1:c.794T>C, XM_011532420.4:c.794T>C, XM_011532420.3:c.794T>C, XM_011532420.2:c.794T>C, XM_011532420.1:c.794T>C, XM_017008852.3:c.794T>C, XM_017008852.2:c.794T>C, XM_017008852.1:c.794T>C, NP_004818.2:p.Met265Thr, NP_001244315.1:p.Met265Thr, NP_001335918.1:p.Met265Thr, NP_001335914.1:p.Met265Thr, NP_001335917.1:p.Met265Thr, NP_001335916.1:p.Met265Thr, NP_001335915.1:p.Met265Thr, XP_011530722.1:p.Met265Thr, XP_016864341.1:p.Met265Thr

Select item 146894718812.

rs1468947188 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:88131068 (GRCh38)
4:89052220 (GRCh37)
Canonical SPDI:: NC_000004.12:88131067:T:C
Gene:: ABCG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.88131068T>C, NC_000004.11:g.89052220T>C, NG_032067.2:g.105255A>G, NM_004827.3:c.524A>G, NM_004827.2:c.524A>G, NM_001257386.2:c.524A>G, NM_001257386.1:c.524A>G, NM_001348989.2:c.524A>G, NM_001348989.1:c.524A>G, NM_001348985.1:c.524A>G, NM_001348988.1:c.524A>G, NM_001348987.1:c.524A>G, NM_001348986.1:c.524A>G, XM_011532420.4:c.524A>G, XM_011532420.3:c.524A>G, XM_011532420.2:c.524A>G, XM_011532420.1:c.524A>G, XM_017008852.3:c.524A>G, XM_017008852.2:c.524A>G, XM_017008852.1:c.524A>G, NP_004818.2:p.Asp175Gly, NP_001244315.1:p.Asp175Gly, NP_001335918.1:p.Asp175Gly, NP_001335914.1:p.Asp175Gly, NP_001335917.1:p.Asp175Gly, NP_001335916.1:p.Asp175Gly, NP_001335915.1:p.Asp175Gly, XP_011530722.1:p.Asp175Gly, XP_016864341.1:p.Asp175Gly

Select item 146653547213.

rs1466535472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:88097552 (GRCh38)
4:89018704 (GRCh37)
Canonical SPDI:: NC_000004.12:88097551:C:T
Gene:: ABCG2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000004.12:g.88097552C>T, NC_000004.11:g.89018704C>T, NG_032067.2:g.138771G>A, NM_004827.3:c.1548G>A, NM_004827.2:c.1548G>A, NM_001257386.2:c.1548G>A, NM_001257386.1:c.1548G>A, NM_001348989.2:c.1548G>A, NM_001348989.1:c.1548G>A, NM_001348985.1:c.1548G>A, NM_001348988.1:c.1548G>A, NM_001348987.1:c.1542G>A, NM_001348986.1:c.1548G>A, XM_011532420.4:c.1548G>A, XM_011532420.3:c.1548G>A, XM_011532420.2:c.1548G>A, XM_011532420.1:c.1548G>A, XM_017008852.3:c.1542G>A, XM_017008852.2:c.1542G>A, XM_017008852.1:c.1542G>A

Select item 146460039714.

rs1464600397 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:88118196 (GRCh38)
4:89039348 (GRCh37)
Canonical SPDI:: NC_000004.12:88118195:A:G
Gene:: ABCG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.88118196A>G, NC_000004.11:g.89039348A>G, NG_032067.2:g.118127T>C, NM_004827.3:c.754T>C, NM_004827.2:c.754T>C, NM_001257386.2:c.754T>C, NM_001257386.1:c.754T>C, NM_001348989.2:c.754T>C, NM_001348989.1:c.754T>C, NM_001348985.1:c.754T>C, NM_001348988.1:c.754T>C, NM_001348987.1:c.754T>C, NM_001348986.1:c.754T>C, XM_011532420.4:c.754T>C, XM_011532420.3:c.754T>C, XM_011532420.2:c.754T>C, XM_011532420.1:c.754T>C, XM_017008852.3:c.754T>C, XM_017008852.2:c.754T>C, XM_017008852.1:c.754T>C

Select item 146107916915.

rs1461079169 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:88132623 (GRCh38)
4:89053775 (GRCh37)
Canonical SPDI:: NC_000004.12:88132622:T:C
Gene:: ABCG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.88132623T>C, NC_000004.11:g.89053775T>C, NG_032067.2:g.103700A>G, NM_004827.3:c.216A>G, NM_004827.2:c.216A>G, NM_001257386.2:c.216A>G, NM_001257386.1:c.216A>G, NM_001348989.2:c.216A>G, NM_001348989.1:c.216A>G, NM_001348985.1:c.216A>G, NM_001348988.1:c.216A>G, NM_001348987.1:c.216A>G, NM_001348986.1:c.216A>G, XM_011532420.4:c.216A>G, XM_011532420.3:c.216A>G, XM_011532420.2:c.216A>G, XM_011532420.1:c.216A>G, XM_017008852.3:c.216A>G, XM_017008852.2:c.216A>G, XM_017008852.1:c.216A>G

Select item 146035020816.

rs1460350208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:88092251 (GRCh38)
4:89013403 (GRCh37)
Canonical SPDI:: NC_000004.12:88092250:G:A
Gene:: ABCG2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.88092251G>A, NC_000004.11:g.89013403G>A, NG_032067.2:g.144072C>T, NM_004827.3:c.1951C>T, NM_004827.2:c.1951C>T, NM_001257386.2:c.*105C>T, NM_001257386.1:c.*105C>T, NM_001348989.2:c.1951C>T, NM_001348989.1:c.1951C>T, NM_001348985.1:c.1951C>T, NM_001348988.1:c.1951C>T, NM_001348987.1:c.1945C>T, NM_001348986.1:c.1951C>T, XM_011532420.4:c.1951C>T, XM_011532420.3:c.1951C>T, XM_011532420.2:c.1951C>T, XM_011532420.1:c.1951C>T, XM_017008852.3:c.1945C>T, XM_017008852.2:c.1945C>T, XM_017008852.1:c.1945C>T, NP_004818.2:p.Leu651Phe, NP_001335918.1:p.Leu651Phe, NP_001335914.1:p.Leu651Phe, NP_001335917.1:p.Leu651Phe, NP_001335916.1:p.Leu649Phe, NP_001335915.1:p.Leu651Phe, XP_011530722.1:p.Leu651Phe, XP_016864341.1:p.Leu649Phe

Select item 145614994817.

rs1456149948 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:88114989 (GRCh38)
4:89036141 (GRCh37)
Canonical SPDI:: NC_000004.12:88114988:G:T
Gene:: ABCG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.88114989G>T, NC_000004.11:g.89036141G>T, NG_032067.2:g.121334C>A, NM_004827.3:c.911C>A, NM_004827.2:c.911C>A, NM_001257386.2:c.911C>A, NM_001257386.1:c.911C>A, NM_001348989.2:c.911C>A, NM_001348989.1:c.911C>A, NM_001348985.1:c.911C>A, NM_001348988.1:c.911C>A, NM_001348987.1:c.911C>A, NM_001348986.1:c.911C>A, XM_011532420.4:c.911C>A, XM_011532420.3:c.911C>A, XM_011532420.2:c.911C>A, XM_011532420.1:c.911C>A, XM_017008852.3:c.911C>A, XM_017008852.2:c.911C>A, XM_017008852.1:c.911C>A, NP_004818.2:p.Ala304Asp, NP_001244315.1:p.Ala304Asp, NP_001335918.1:p.Ala304Asp, NP_001335914.1:p.Ala304Asp, NP_001335917.1:p.Ala304Asp, NP_001335916.1:p.Ala304Asp, NP_001335915.1:p.Ala304Asp, XP_011530722.1:p.Ala304Asp, XP_016864341.1:p.Ala304Asp

Select item 145578996518.

rs1455789965 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:88139930 (GRCh38)
4:89061082 (GRCh37)
Canonical SPDI:: NC_000004.12:88139929:C:G,NC_000004.12:88139929:C:T
Gene:: ABCG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.88139930C>G, NC_000004.12:g.88139930C>T, NC_000004.11:g.89061082C>G, NC_000004.11:g.89061082C>T, NG_032067.2:g.96393G>C, NG_032067.2:g.96393G>A, NM_004827.3:c.66G>C, NM_004827.3:c.66G>A, NM_004827.2:c.66G>C, NM_004827.2:c.66G>A, NM_001257386.2:c.66G>C, NM_001257386.2:c.66G>A, NM_001257386.1:c.66G>C, NM_001257386.1:c.66G>A, NM_001348989.2:c.66G>C, NM_001348989.2:c.66G>A, NM_001348989.1:c.66G>C, NM_001348989.1:c.66G>A, NM_001348985.1:c.66G>C, NM_001348985.1:c.66G>A, NM_001348988.1:c.66G>C, NM_001348988.1:c.66G>A, NM_001348987.1:c.66G>C, NM_001348987.1:c.66G>A, NM_001348986.1:c.66G>C, NM_001348986.1:c.66G>A, XM_011532420.4:c.66G>C, XM_011532420.4:c.66G>A, XM_011532420.3:c.66G>C, XM_011532420.3:c.66G>A, XM_011532420.2:c.66G>C, XM_011532420.2:c.66G>A, XM_011532420.1:c.66G>C, XM_011532420.1:c.66G>A, XM_017008852.3:c.66G>C, XM_017008852.3:c.66G>A, XM_017008852.2:c.66G>C, XM_017008852.2:c.66G>A, XM_017008852.1:c.66G>C, XM_017008852.1:c.66G>A

Select item 145521644919.

rs1455216449 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:88121660 (GRCh38)
4:89042812 (GRCh37)
Canonical SPDI:: NC_000004.12:88121659:T:C
Gene:: ABCG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.88121660T>C, NC_000004.11:g.89042812T>C, NG_032067.2:g.114663A>G, NM_004827.3:c.664A>G, NM_004827.2:c.664A>G, NM_001257386.2:c.664A>G, NM_001257386.1:c.664A>G, NM_001348989.2:c.664A>G, NM_001348989.1:c.664A>G, NM_001348985.1:c.664A>G, NM_001348988.1:c.664A>G, NM_001348987.1:c.664A>G, NM_001348986.1:c.664A>G, XM_011532420.4:c.664A>G, XM_011532420.3:c.664A>G, XM_011532420.2:c.664A>G, XM_011532420.1:c.664A>G, XM_017008852.3:c.664A>G, XM_017008852.2:c.664A>G, XM_017008852.1:c.664A>G, NP_004818.2:p.Asn222Asp, NP_001244315.1:p.Asn222Asp, NP_001335918.1:p.Asn222Asp, NP_001335914.1:p.Asn222Asp, NP_001335917.1:p.Asn222Asp, NP_001335916.1:p.Asn222Asp, NP_001335915.1:p.Asn222Asp, XP_011530722.1:p.Asn222Asp, XP_016864341.1:p.Asn222Asp

Select item 145366950420.

rs1453669504 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:88113352 (GRCh38)
4:89034504 (GRCh37)
Canonical SPDI:: NC_000004.12:88113351:T:C
Gene:: ABCG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000004.12:g.88113352T>C, NC_000004.11:g.89034504T>C, NG_032067.2:g.122971A>G, NM_004827.3:c.1145A>G, NM_004827.2:c.1145A>G, NM_001257386.2:c.1145A>G, NM_001257386.1:c.1145A>G, NM_001348989.2:c.1145A>G, NM_001348989.1:c.1145A>G, NM_001348985.1:c.1145A>G, NM_001348988.1:c.1145A>G, NM_001348987.1:c.1139A>G, NM_001348986.1:c.1145A>G, XM_011532420.4:c.1145A>G, XM_011532420.3:c.1145A>G, XM_011532420.2:c.1145A>G, XM_011532420.1:c.1145A>G, XM_017008852.3:c.1139A>G, XM_017008852.2:c.1139A>G, XM_017008852.1:c.1139A>G, NP_004818.2:p.Lys382Arg, NP_001244315.1:p.Lys382Arg, NP_001335918.1:p.Lys382Arg, NP_001335914.1:p.Lys382Arg, NP_001335917.1:p.Lys382Arg, NP_001335916.1:p.Lys380Arg, NP_001335915.1:p.Lys382Arg, XP_011530722.1:p.Lys382Arg, XP_016864341.1:p.Lys380Arg

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Result Filters

Clinical Significance

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