SNP Links for Protein (Select 13435386) - SNP

Links from Protein

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Select item 14889280311.

rs1488928031 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:99780068 (GRCh38)
7:99377691 (GRCh37)
Canonical SPDI:: NC_000007.14:99780067:T:C
Gene:: CYP3A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99780068T>C, NC_000007.13:g.99377691T>C, NG_008421.1:g.9118A>G, NM_017460.6:c.89A>G, NM_017460.5:c.89A>G, NM_001202855.3:c.89A>G, NM_001202855.2:c.89A>G, NM_000776.1:c.89A>G, NP_059488.2:p.His30Arg, NP_001189784.1:p.His30Arg

Select item 14832301732.

rs1483230173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99770150 (GRCh38)
7:99367773 (GRCh37)
Canonical SPDI:: NC_000007.14:99770149:G:A
Gene:: CYP3A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000023/6 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000007.14:g.99770150G>A, NC_000007.13:g.99367773G>A, NG_008421.1:g.19036C>T, NM_017460.6:c.404C>T, NM_017460.5:c.404C>T, NM_001202855.3:c.404C>T, NM_001202855.2:c.404C>T, NM_001202856.1:c.257C>T, NM_000776.1:c.404C>T, NP_059488.2:p.Pro135Leu, NP_001189784.1:p.Pro135Leu

Select item 14819428413.

rs1481942841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:99762104 (GRCh38)
7:99359727 (GRCh37)
Canonical SPDI:: NC_000007.14:99762103:G:A,NC_000007.14:99762103:G:C
Gene:: CYP3A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99762104G>A, NC_000007.14:g.99762104G>C, NC_000007.13:g.99359727G>A, NC_000007.13:g.99359727G>C, NG_008421.1:g.27082C>T, NG_008421.1:g.27082C>G, NM_017460.6:c.1190C>T, NM_017460.6:c.1190C>G, NM_017460.5:c.1190C>T, NM_017460.5:c.1190C>G, NM_001202855.3:c.1187C>T, NM_001202855.3:c.1187C>G, NM_001202855.2:c.1187C>T, NM_001202855.2:c.1187C>G, NM_001202856.1:c.1043C>T, NM_001202856.1:c.1043C>G, NM_001202857.1:c.740C>T, NM_001202857.1:c.740C>G, NM_000776.1:c.1193C>T, NM_000776.1:c.1193C>G, NP_059488.2:p.Pro397Leu, NP_059488.2:p.Pro397Arg, NP_001189784.1:p.Pro396Leu, NP_001189784.1:p.Pro396Arg

Select item 14798591584.

rs1479859158 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:99770213 (GRCh38)
7:99367836 (GRCh37)
Canonical SPDI:: NC_000007.14:99770212:A:T
Gene:: CYP3A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99770213A>T, NC_000007.13:g.99367836A>T, NG_008421.1:g.18973T>A, NM_017460.6:c.341T>A, NM_017460.5:c.341T>A, NM_001202855.3:c.341T>A, NM_001202855.2:c.341T>A, NM_001202856.1:c.194T>A, NM_000776.1:c.341T>A, NP_059488.2:p.Met114Lys, NP_001189784.1:p.Met114Lys

Select item 14791677885.

rs1479167788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99768423 (GRCh38)
7:99366046 (GRCh37)
Canonical SPDI:: NC_000007.14:99768422:C:T
Gene:: CYP3A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.99768423C>T, NC_000007.13:g.99366046C>T, NG_008421.1:g.20763G>A, NM_017460.6:c.601G>A, NM_017460.5:c.601G>A, NM_001202855.3:c.601G>A, NM_001202855.2:c.601G>A, NM_001202856.1:c.454G>A, NM_001202857.1:c.151G>A, NM_000776.1:c.601G>A, NP_059488.2:p.Asp201Asn, NP_001189784.1:p.Asp201Asn

Select item 14787960516.

rs1478796051 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:99778065 (GRCh38)
7:99375689 (GRCh37)
Canonical SPDI:: NC_000007.14:99778065:AAA:AAAA
Gene:: CYP3A4 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.99778068dup, NC_000007.13:g.99375691dup, NG_008421.1:g.11120dup, NM_017460.6:c.180dup, NM_017460.5:c.180dup, NM_001202855.3:c.180dup, NM_001202855.2:c.180dup, NM_000776.1:c.180dup, NP_059488.2:p.Asp61Ter, NP_001189784.1:p.Asp61Ter

Select item 14784866277.

rs1478486627 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99767171 (GRCh38)
7:99364794 (GRCh37)
Canonical SPDI:: NC_000007.14:99767170:A:G
Gene:: CYP3A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.99767171A>G, NC_000007.13:g.99364794A>G, NG_008421.1:g.22015T>C, NM_017460.6:c.758T>C, NM_017460.5:c.758T>C, NM_001202855.3:c.755T>C, NM_001202855.2:c.755T>C, NM_001202856.1:c.611T>C, NM_001202857.1:c.308T>C, NM_000776.1:c.758T>C, NP_059488.2:p.Val253Ala, NP_001189784.1:p.Val252Ala

Select item 14761966518.

rs1476196651 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 7:99758164 (GRCh38)
7:99355787 (GRCh37)
Canonical SPDI:: NC_000007.14:99758162:CTC:C
Gene:: CYP3A4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99758164_99758165del, NC_000007.13:g.99355787_99355788del, NG_008421.1:g.31022_31023del, NM_017460.6:c.1481_1482del, NM_017460.5:c.1481_1482del, NM_001202855.3:c.1478_1479del, NM_001202855.2:c.1478_1479del, NM_001202856.1:c.1334_1335del, NM_001202857.1:c.1031_1032del, NM_000776.1:c.1484_1485del, NP_059488.2:p.Glu494fs, NP_001189784.1:p.Glu493fs

Select item 14752107989.

rs1475210798 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 7:99760972 (GRCh38)
7:99358595 (GRCh37)
Canonical SPDI:: NC_000007.14:99760966:TTCTTCTT:TTCTT
Gene:: CYP3A4 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.99760969CTT[1], NC_000007.13:g.99358592CTT[1], NG_008421.1:g.28214GAA[1], NM_017460.6:c.1263GAA[1], NM_017460.5:c.1263GAA[1], NM_001202855.3:c.1260GAA[1], NM_001202855.2:c.1260GAA[1], NM_001202856.1:c.1116GAA[1], NM_001202857.1:c.813GAA[1], NM_000776.1:c.1266GAA[1], NP_059488.2:p.Lys422del, NP_001189784.1:p.Lys421del

Select item 147420786710.

rs1474207867 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99768430 (GRCh38)
7:99366053 (GRCh37)
Canonical SPDI:: NC_000007.14:99768429:A:G
Gene:: CYP3A4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000546/1 (Korea1K)
HGVS:: NC_000007.14:g.99768430A>G, NC_000007.13:g.99366053A>G, NG_008421.1:g.20756T>C, NM_017460.6:c.594T>C, NM_017460.5:c.594T>C, NM_001202855.3:c.594T>C, NM_001202855.2:c.594T>C, NM_001202856.1:c.447T>C, NM_001202857.1:c.144T>C, NM_000776.1:c.594T>C

Select item 147409488611.

rs1474094886 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:99772643 (GRCh38)
7:99370266 (GRCh37)
Canonical SPDI:: NC_000007.14:99772642:T:C
Gene:: CYP3A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000007.14:g.99772643T>C, NC_000007.13:g.99370266T>C, NG_008421.1:g.16543A>G, NM_017460.6:c.265A>G, NM_017460.5:c.265A>G, NM_001202855.3:c.265A>G, NM_001202855.2:c.265A>G, NM_001202856.1:c.118A>G, NM_000776.1:c.265A>G, NP_059488.2:p.Met89Val, NP_001189784.1:p.Met89Val

Select item 147365433012.

rs1473654330 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99768482 (GRCh38)
7:99366105 (GRCh37)
Canonical SPDI:: NC_000007.14:99768481:A:G
Gene:: CYP3A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99768482A>G, NC_000007.13:g.99366105A>G, NG_008421.1:g.20704T>C, NM_017460.6:c.542T>C, NM_017460.5:c.542T>C, NM_001202855.3:c.542T>C, NM_001202855.2:c.542T>C, NM_001202856.1:c.395T>C, NM_001202857.1:c.92T>C, NM_000776.1:c.542T>C, NP_059488.2:p.Met181Thr, NP_001189784.1:p.Met181Thr

Select item 146785221613.

rs1467852216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99767249 (GRCh38)
7:99364872 (GRCh37)
Canonical SPDI:: NC_000007.14:99767248:G:A
Gene:: CYP3A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.0005/1 (Korea1K)
HGVS:: NC_000007.14:g.99767249G>A, NC_000007.13:g.99364872G>A, NG_008421.1:g.21937C>T, NM_017460.6:c.680C>T, NM_017460.5:c.680C>T, NM_001202855.3:c.677C>T, NM_001202855.2:c.677C>T, NM_001202856.1:c.533C>T, NM_001202857.1:c.230C>T, NM_000776.1:c.680C>T, NP_059488.2:p.Pro227Leu, NP_001189784.1:p.Pro226Leu

Select item 146281714514.

rs1462817145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99762231 (GRCh38)
7:99359854 (GRCh37)
Canonical SPDI:: NC_000007.14:99762230:A:G
Gene:: CYP3A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99762231A>G, NC_000007.13:g.99359854A>G, NG_008421.1:g.26955T>C, NM_017460.6:c.1063T>C, NM_017460.5:c.1063T>C, NM_001202855.3:c.1060T>C, NM_001202855.2:c.1060T>C, NM_001202856.1:c.916T>C, NM_001202857.1:c.613T>C, NM_000776.1:c.1066T>C, NP_059488.2:p.Tyr355His, NP_001189784.1:p.Tyr354His

Select item 146156878115.

rs1461568781 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99762211 (GRCh38)
7:99359834 (GRCh37)
Canonical SPDI:: NC_000007.14:99762210:A:G
Gene:: CYP3A4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.99762211A>G, NC_000007.13:g.99359834A>G, NG_008421.1:g.26975T>C, NM_017460.6:c.1083T>C, NM_017460.5:c.1083T>C, NM_001202855.3:c.1080T>C, NM_001202855.2:c.1080T>C, NM_001202856.1:c.936T>C, NM_001202857.1:c.633T>C, NM_000776.1:c.1086T>C

Select item 146135382616.

rs1461353826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:99760957 (GRCh38)
7:99358580 (GRCh37)
Canonical SPDI:: NC_000007.14:99760956:G:T
Gene:: CYP3A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.99760957G>T, NC_000007.13:g.99358580G>T, NG_008421.1:g.28229C>A, NM_017460.6:c.1278C>A, NM_017460.5:c.1278C>A, NM_001202855.3:c.1275C>A, NM_001202855.2:c.1275C>A, NM_001202856.1:c.1131C>A, NM_001202857.1:c.828C>A, NM_000776.1:c.1281C>A, NP_059488.2:p.Asn426Lys, NP_001189784.1:p.Asn425Lys

Select item 146130099117.

rs1461300991 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99760894 (GRCh38)
7:99358517 (GRCh37)
Canonical SPDI:: NC_000007.14:99760893:A:G
Gene:: CYP3A4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.99760894A>G, NC_000007.13:g.99358517A>G, NG_008421.1:g.28292T>C, NM_017460.6:c.1341T>C, NM_017460.5:c.1341T>C, NM_001202855.3:c.1338T>C, NM_001202855.2:c.1338T>C, NM_001202856.1:c.1194T>C, NM_001202857.1:c.891T>C, NM_000776.1:c.1344T>C

Select item 146052561818.

rs1460525618 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:99772617 (GRCh38)
7:99370240 (GRCh37)
Canonical SPDI:: NC_000007.14:99772616:T:A
Gene:: CYP3A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.99772617T>A, NC_000007.13:g.99370240T>A, NG_008421.1:g.16569A>T, NM_017460.6:c.291A>T, NM_017460.5:c.291A>T, NM_001202855.3:c.291A>T, NM_001202855.2:c.291A>T, NM_001202856.1:c.144A>T, NM_000776.1:c.291A>T, NP_059488.2:p.Glu97Asp, NP_001189784.1:p.Glu97Asp

Select item 145963607819.

rs1459636078 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:99760861 (GRCh38)
7:99358484 (GRCh37)
Canonical SPDI:: NC_000007.14:99760860:T:C
Gene:: CYP3A4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.99760861T>C, NC_000007.13:g.99358484T>C, NG_008421.1:g.28325A>G, NM_017460.6:c.1374A>G, NM_017460.5:c.1374A>G, NM_001202855.3:c.1371A>G, NM_001202855.2:c.1371A>G, NM_001202856.1:c.1227A>G, NM_001202857.1:c.924A>G, NM_000776.1:c.1377A>G

Select item 145799817020.

rs1457998170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99760920 (GRCh38)
7:99358543 (GRCh37)
Canonical SPDI:: NC_000007.14:99760919:G:A
Gene:: CYP3A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000007.14:g.99760920G>A, NC_000007.13:g.99358543G>A, NG_008421.1:g.28266C>T, NM_017460.6:c.1315C>T, NM_017460.5:c.1315C>T, NM_001202855.3:c.1312C>T, NM_001202855.2:c.1312C>T, NM_001202856.1:c.1168C>T, NM_001202857.1:c.865C>T, NM_000776.1:c.1318C>T, NP_059488.2:p.Pro439Ser, NP_001189784.1:p.Pro438Ser

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