SNP Links for Protein (Select 69354671) - SNP

Select item 14890392271.

rs1489039227 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30589909 (GRCh38)
6:30557686 (GRCh37)
Canonical SPDI:: NC_000006.12:30589908:G:A
Gene:: ABCF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30589909G>A, NC_000006.11:g.30557686G>A, NG_047030.1:g.23517G>A, NM_001090.3:c.2054G>A, NM_001090.2:c.2054G>A, NM_001025091.2:c.2168G>A, NM_001025091.1:c.2168G>A, NT_113891.3:g.2069626G>A, NT_113891.2:g.2069732G>A, NT_167247.2:g.1933955G>A, NT_167247.1:g.1939540G>A, NT_167246.2:g.1900138G>A, NT_167246.1:g.1905758G>A, NT_167249.2:g.1890664G>A, NT_167249.1:g.1889962G>A, NT_167248.2:g.1844991G>A, NT_167248.1:g.1850587G>A, NT_167245.2:g.1845735G>A, NT_167245.1:g.1851320G>A, NP_001081.1:p.Arg685His, NP_001020262.1:p.Arg723His

Select item 14866362552.

rs1486636255 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTT [Show Flanks]
Chromosome:: 6:30585335 (GRCh38)
6:30553113 (GRCh37)
Canonical SPDI:: NC_000006.12:30585335::TTT
Gene:: ABCF1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
HGVS:: NC_000006.12:g.30585335_30585336insTTT, NC_000006.11:g.30553112_30553113insTTT, NG_047030.1:g.18943_18944insTTT, NM_001090.3:c.1353_1354insTTT, NM_001090.2:c.1353_1354insTTT, NM_001025091.2:c.1467_1468insTTT, NM_001025091.1:c.1467_1468insTTT, NT_113891.3:g.2065059_2065060insTTT, NT_113891.2:g.2065165_2065166insTTT, NT_167247.2:g.1929381_1929382insTTT, NT_167247.1:g.1934966_1934967insTTT, NT_167246.2:g.1895564_1895565insTTT, NT_167246.1:g.1901184_1901185insTTT, NT_167249.2:g.1886096_1886097insTTT, NT_167249.1:g.1885394_1885395insTTT, NT_167248.2:g.1840424_1840425insTTT, NT_167248.1:g.1846020_1846021insTTT, NT_167245.2:g.1841168_1841169insTTT, NT_167245.1:g.1846753_1846754insTTT, NP_001081.1:p.Leu452_Asn453insPhe, NP_001020262.1:p.Leu490_Asn491insPhe

Select item 14853854643.

rs1485385464 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:30585330 (GRCh38)
6:30553108 (GRCh37)
Canonical SPDI:: NC_000006.12:30585330::C
Gene:: ABCF1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000006.12:g.30585330_30585331insC, NC_000006.11:g.30553107_30553108insC, NG_047030.1:g.18938_18939insC, NM_001090.3:c.1348_1349insC, NM_001090.2:c.1348_1349insC, NM_001025091.2:c.1462_1463insC, NM_001025091.1:c.1462_1463insC, NT_113891.3:g.2065054_2065055insC, NT_113891.2:g.2065160_2065161insC, NT_167247.2:g.1929376_1929377insC, NT_167247.1:g.1934961_1934962insC, NT_167246.2:g.1895559_1895560insC, NT_167246.1:g.1901179_1901180insC, NT_167249.2:g.1886091_1886092insC, NT_167249.1:g.1885389_1885390insC, NT_167248.2:g.1840419_1840420insC, NT_167248.1:g.1846015_1846016insC, NT_167245.2:g.1841163_1841164insC, NT_167245.1:g.1846748_1846749insC, NP_001081.1:p.Ile450fs, NP_001020262.1:p.Ile488fs

Select item 14852537074.

rs1485253707 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30585677 (GRCh38)
6:30553454 (GRCh37)
Canonical SPDI:: NC_000006.12:30585676:A:G
Gene:: ABCF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30585677A>G, NC_000006.11:g.30553454A>G, NG_047030.1:g.19285A>G, NM_001090.3:c.1481A>G, NM_001090.2:c.1481A>G, NM_001025091.2:c.1595A>G, NM_001025091.1:c.1595A>G, NT_113891.3:g.2065401A>G, NT_113891.2:g.2065507A>G, NT_167247.2:g.1929723A>G, NT_167247.1:g.1935308A>G, NT_167246.2:g.1895906A>G, NT_167246.1:g.1901526A>G, NT_167249.2:g.1886438A>G, NT_167249.1:g.1885736A>G, NT_167248.2:g.1840766A>G, NT_167248.1:g.1846362A>G, NT_167245.2:g.1841510A>G, NT_167245.1:g.1847095A>G, NP_001081.1:p.Asn494Ser, NP_001020262.1:p.Asn532Ser

Select item 14819458315.

rs1481945831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:30590560 (GRCh38)
6:30558337 (GRCh37)
Canonical SPDI:: NC_000006.12:30590559:C:G
Gene:: ABCF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30590560C>G, NC_000006.11:g.30558337C>G, NG_047030.1:g.24168C>G, NM_001090.3:c.2283C>G, NM_001090.2:c.2283C>G, NM_001025091.2:c.2397C>G, NM_001025091.1:c.2397C>G, NT_113891.3:g.2070277C>G, NT_113891.2:g.2070383C>G, NT_167247.2:g.1934606C>G, NT_167247.1:g.1940191C>G, NT_167246.2:g.1900789C>G, NT_167246.1:g.1906409C>G, NT_167249.2:g.1891315C>G, NT_167249.1:g.1890613C>G, NT_167248.2:g.1845642C>G, NT_167248.1:g.1851238C>G, NT_167245.2:g.1846386C>G, NT_167245.1:g.1851971C>G

Select item 14785120636.

rs1478512063 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:30590695 (GRCh38)
6:30558472 (GRCh37)
Canonical SPDI:: NC_000006.12:30590694:A:C
Gene:: ABCF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/1 (GnomAD)
HGVS:: NC_000006.12:g.30590695A>C, NC_000006.11:g.30558472A>C, NG_047030.1:g.24303A>C, NM_001090.3:c.2418A>C, NM_001090.2:c.2418A>C, NM_001025091.2:c.2532A>C, NM_001025091.1:c.2532A>C, NT_113891.3:g.2070412A>C, NT_113891.2:g.2070518A>C, NT_167247.2:g.1934741A>C, NT_167247.1:g.1940326A>C, NT_167246.2:g.1900924A>C, NT_167246.1:g.1906544A>C, NT_167249.2:g.1891450A>C, NT_167249.1:g.1890748A>C, NT_167248.2:g.1845777A>C, NT_167248.1:g.1851373A>C, NT_167245.2:g.1846521A>C, NT_167245.1:g.1852106A>C

Select item 14784258937.

rs1478425893 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30577831 (GRCh38)
6:30545608 (GRCh37)
Canonical SPDI:: NC_000006.12:30577830:T:C
Gene:: ABCF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30577831T>C, NC_000006.11:g.30545608T>C, NG_047030.1:g.11439T>C, NM_001090.3:c.134T>C, NM_001090.2:c.134T>C, NM_001025091.2:c.134T>C, NM_001025091.1:c.134T>C, NT_113891.3:g.2057554T>C, NT_113891.2:g.2057660T>C, NT_167247.2:g.1921877T>C, NT_167247.1:g.1927462T>C, NT_167246.2:g.1888060T>C, NT_167246.1:g.1893680T>C, NT_167249.2:g.1878591T>C, NT_167249.1:g.1877889T>C, NT_167248.2:g.1832920T>C, NT_167248.1:g.1838516T>C, NT_167245.2:g.1833662T>C, NT_167245.1:g.1839247T>C, NP_001081.1:p.Leu45Pro, NP_001020262.1:p.Leu45Pro

Select item 14753817768.

rs1475381776 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30583864 (GRCh38)
6:30551641 (GRCh37)
Canonical SPDI:: NC_000006.12:30583863:A:G
Gene:: ABCF1 (Varview), MIR877 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
G=0.000071/1 (TOMMO)
HGVS:: NC_000006.12:g.30583864A>G, NC_000006.11:g.30551641A>G, NG_047030.1:g.17472A>G, NM_001090.3:c.962A>G, NM_001090.2:c.962A>G, NM_001025091.2:c.1076A>G, NM_001025091.1:c.1076A>G, NT_113891.3:g.2063588A>G, NT_113891.2:g.2063694A>G, NT_167247.2:g.1927910A>G, NT_167247.1:g.1933495A>G, NT_167246.2:g.1894093A>G, NT_167246.1:g.1899713A>G, NT_167249.2:g.1884625A>G, NT_167249.1:g.1883923A>G, NT_167248.2:g.1838953A>G, NT_167248.1:g.1844549A>G, NT_167245.2:g.1839697A>G, NT_167245.1:g.1845282A>G, NP_001081.1:p.Asn321Ser, NP_001020262.1:p.Asn359Ser

Select item 14750774279.

rs1475077427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30590578 (GRCh38)
6:30558355 (GRCh37)
Canonical SPDI:: NC_000006.12:30590577:C:T
Gene:: ABCF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30590578C>T, NC_000006.11:g.30558355C>T, NG_047030.1:g.24186C>T, NM_001090.3:c.2301C>T, NM_001090.2:c.2301C>T, NM_001025091.2:c.2415C>T, NM_001025091.1:c.2415C>T, NT_113891.3:g.2070295C>T, NT_113891.2:g.2070401C>T, NT_167247.2:g.1934624C>T, NT_167247.1:g.1940209C>T, NT_167246.2:g.1900807C>T, NT_167246.1:g.1906427C>T, NT_167249.2:g.1891333C>T, NT_167249.1:g.1890631C>T, NT_167248.2:g.1845660C>T, NT_167248.1:g.1851256C>T, NT_167245.2:g.1846404C>T, NT_167245.1:g.1851989C>T

Select item 147482161710.

rs1474821617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:30586292 (GRCh38)
6:30554069 (GRCh37)
Canonical SPDI:: NC_000006.12:30586291:G:A,NC_000006.12:30586291:G:T
Gene:: ABCF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000006.12:g.30586292G>A, NC_000006.12:g.30586292G>T, NC_000006.11:g.30554069G>A, NC_000006.11:g.30554069G>T, NG_047030.1:g.19900G>A, NG_047030.1:g.19900G>T, NM_001090.3:c.1758G>A, NM_001090.3:c.1758G>T, NM_001090.2:c.1758G>A, NM_001090.2:c.1758G>T, NM_001025091.2:c.1872G>A, NM_001025091.2:c.1872G>T, NM_001025091.1:c.1872G>A, NM_001025091.1:c.1872G>T, NT_113891.3:g.2066016G>A, NT_113891.3:g.2066016G>T, NT_113891.2:g.2066122G>A, NT_113891.2:g.2066122G>T, NT_167247.2:g.1930338G>A, NT_167247.2:g.1930338G>T, NT_167247.1:g.1935923G>A, NT_167247.1:g.1935923G>T, NT_167246.2:g.1896521G>A, NT_167246.2:g.1896521G>T, NT_167246.1:g.1902141G>A, NT_167246.1:g.1902141G>T, NT_167249.2:g.1887053G>A, NT_167249.2:g.1887053G>T, NT_167249.1:g.1886351G>A, NT_167249.1:g.1886351G>T, NT_167248.2:g.1841381G>A, NT_167248.2:g.1841381G>T, NT_167248.1:g.1846977G>A, NT_167248.1:g.1846977G>T, NT_167245.2:g.1842125G>A, NT_167245.2:g.1842125G>T, NT_167245.1:g.1847710G>A, NT_167245.1:g.1847710G>T

Select item 147471750011.

rs1474717500 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:30585588 (GRCh38)
6:30553365 (GRCh37)
Canonical SPDI:: NC_000006.12:30585587:G:A,NC_000006.12:30585587:G:T
Gene:: ABCF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30585588G>A, NC_000006.12:g.30585588G>T, NC_000006.11:g.30553365G>A, NC_000006.11:g.30553365G>T, NG_047030.1:g.19196G>A, NG_047030.1:g.19196G>T, NM_001090.3:c.1392G>A, NM_001090.3:c.1392G>T, NM_001090.2:c.1392G>A, NM_001090.2:c.1392G>T, NM_001025091.2:c.1506G>A, NM_001025091.2:c.1506G>T, NM_001025091.1:c.1506G>A, NM_001025091.1:c.1506G>T, NT_113891.3:g.2065312G>A, NT_113891.3:g.2065312G>T, NT_113891.2:g.2065418G>A, NT_113891.2:g.2065418G>T, NT_167247.2:g.1929634G>A, NT_167247.2:g.1929634G>T, NT_167247.1:g.1935219G>A, NT_167247.1:g.1935219G>T, NT_167246.2:g.1895817G>A, NT_167246.2:g.1895817G>T, NT_167246.1:g.1901437G>A, NT_167246.1:g.1901437G>T, NT_167249.2:g.1886349G>A, NT_167249.2:g.1886349G>T, NT_167249.1:g.1885647G>A, NT_167249.1:g.1885647G>T, NT_167248.2:g.1840677G>A, NT_167248.2:g.1840677G>T, NT_167248.1:g.1846273G>A, NT_167248.1:g.1846273G>T, NT_167245.2:g.1841421G>A, NT_167245.2:g.1841421G>T, NT_167245.1:g.1847006G>A, NT_167245.1:g.1847006G>T

Select item 147439855712.

rs1474398557 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:30584453 (GRCh38)
6:30552230 (GRCh37)
Canonical SPDI:: NC_000006.12:30584452:T:G
Gene:: ABCF1 (Varview), MIR877 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000043/6 (GnomAD)
G=0.000064/17 (TOPMED)
HGVS:: NC_000006.12:g.30584453T>G, NC_000006.11:g.30552230T>G, NG_047030.1:g.18061T>G, NM_001090.3:c.1164T>G, NM_001090.2:c.1164T>G, NM_001025091.2:c.1278T>G, NM_001025091.1:c.1278T>G, NT_113891.3:g.2064177T>G, NT_113891.2:g.2064283T>G, NT_167247.2:g.1928499T>G, NT_167247.1:g.1934084T>G, NT_167246.2:g.1894682T>G, NT_167246.1:g.1900302T>G, NT_167249.2:g.1885214T>G, NT_167249.1:g.1884512T>G, NT_167248.2:g.1839542T>G, NT_167248.1:g.1845138T>G, NT_167245.2:g.1840286T>G, NT_167245.1:g.1845871T>G

Select item 147406677713.

rs1474066777 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30590585 (GRCh38)
6:30558362 (GRCh37)
Canonical SPDI:: NC_000006.12:30590584:C:T
Gene:: ABCF1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30590585C>T, NC_000006.11:g.30558362C>T, NG_047030.1:g.24193C>T, NM_001090.3:c.2308C>T, NM_001090.2:c.2308C>T, NM_001025091.2:c.2422C>T, NM_001025091.1:c.2422C>T, NT_113891.3:g.2070302C>T, NT_113891.2:g.2070408C>T, NT_167247.2:g.1934631C>T, NT_167247.1:g.1940216C>T, NT_167246.2:g.1900814C>T, NT_167246.1:g.1906434C>T, NT_167249.2:g.1891340C>T, NT_167249.1:g.1890638C>T, NT_167248.2:g.1845667C>T, NT_167248.1:g.1851263C>T, NT_167245.2:g.1846411C>T, NT_167245.1:g.1851996C>T, NP_001081.1:p.Gln770Ter, NP_001020262.1:p.Gln808Ter

Select item 147404098014.

rs1474040980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30586183 (GRCh38)
6:30553960 (GRCh37)
Canonical SPDI:: NC_000006.12:30586182:G:A
Gene:: ABCF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00003/1 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.30586183G>A, NC_000006.11:g.30553960G>A, NG_047030.1:g.19791G>A, NM_001090.3:c.1649G>A, NM_001090.2:c.1649G>A, NM_001025091.2:c.1763G>A, NM_001025091.1:c.1763G>A, NT_113891.3:g.2065907G>A, NT_113891.2:g.2066013G>A, NT_167247.2:g.1930229G>A, NT_167247.1:g.1935814G>A, NT_167246.2:g.1896412G>A, NT_167246.1:g.1902032G>A, NT_167249.2:g.1886944G>A, NT_167249.1:g.1886242G>A, NT_167248.2:g.1841272G>A, NT_167248.1:g.1846868G>A, NT_167245.2:g.1842016G>A, NT_167245.1:g.1847601G>A, NP_001081.1:p.Arg550Gln, NP_001020262.1:p.Arg588Gln

Select item 147279314715.

rs1472793147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30586215 (GRCh38)
6:30553992 (GRCh37)
Canonical SPDI:: NC_000006.12:30586214:C:T
Gene:: ABCF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30586215C>T, NC_000006.11:g.30553992C>T, NG_047030.1:g.19823C>T, NM_001090.3:c.1681C>T, NM_001090.2:c.1681C>T, NM_001025091.2:c.1795C>T, NM_001025091.1:c.1795C>T, NT_113891.3:g.2065939C>T, NT_113891.2:g.2066045C>T, NT_167247.2:g.1930261C>T, NT_167247.1:g.1935846C>T, NT_167246.2:g.1896444C>T, NT_167246.1:g.1902064C>T, NT_167249.2:g.1886976C>T, NT_167249.1:g.1886274C>T, NT_167248.2:g.1841304C>T, NT_167248.1:g.1846900C>T, NT_167245.2:g.1842048C>T, NT_167245.1:g.1847633C>T, NP_001081.1:p.Pro561Ser, NP_001020262.1:p.Pro599Ser

Select item 147117417816.

rs1471174178 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30583083 (GRCh38)
6:30550860 (GRCh37)
Canonical SPDI:: NC_000006.12:30583082:A:G
Gene:: ABCF1 (Varview), MIR877 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30583083A>G, NC_000006.11:g.30550860A>G, NG_047030.1:g.16691A>G, NM_001090.3:c.696A>G, NM_001090.2:c.696A>G, NM_001025091.2:c.810A>G, NM_001025091.1:c.810A>G, NT_113891.3:g.2062807A>G, NT_113891.2:g.2062913A>G, NT_167247.2:g.1927129A>G, NT_167247.1:g.1932714A>G, NT_167246.2:g.1893312A>G, NT_167246.1:g.1898932A>G, NT_167249.2:g.1883844A>G, NT_167249.1:g.1883142A>G, NT_167248.2:g.1838172A>G, NT_167248.1:g.1843768A>G, NT_167245.2:g.1838916A>G, NT_167245.1:g.1844501A>G

Select item 147117113117.

rs1471171131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:30583164 (GRCh38)
6:30550941 (GRCh37)
Canonical SPDI:: NC_000006.12:30583163:G:T
Gene:: ABCF1 (Varview), MIR877 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.30583164G>T, NC_000006.11:g.30550941G>T, NG_047030.1:g.16772G>T, NM_001090.3:c.777G>T, NM_001090.2:c.777G>T, NM_001025091.2:c.891G>T, NM_001025091.1:c.891G>T, NT_113891.3:g.2062888G>T, NT_113891.2:g.2062994G>T, NT_167247.2:g.1927210G>T, NT_167247.1:g.1932795G>T, NT_167246.2:g.1893393G>T, NT_167246.1:g.1899013G>T, NT_167249.2:g.1883925G>T, NT_167249.1:g.1883223G>T, NT_167248.2:g.1838253G>T, NT_167248.1:g.1843849G>T, NT_167245.2:g.1838997G>T, NT_167245.1:g.1844582G>T, NP_001081.1:p.Met259Ile, NP_001020262.1:p.Met297Ile

Select item 147011444018.

rs1470114440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30584268 (GRCh38)
6:30552045 (GRCh37)
Canonical SPDI:: NC_000006.12:30584267:G:A
Gene:: ABCF1 (Varview), MIR877 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30584268G>A, NC_000006.11:g.30552045G>A, NG_047030.1:g.17876G>A, NM_001090.3:c.1065G>A, NM_001090.2:c.1065G>A, NM_001025091.2:c.1179G>A, NM_001025091.1:c.1179G>A, NT_113891.3:g.2063992G>A, NT_113891.2:g.2064098G>A, NT_167247.2:g.1928314G>A, NT_167247.1:g.1933899G>A, NT_167246.2:g.1894497G>A, NT_167246.1:g.1900117G>A, NT_167249.2:g.1885029G>A, NT_167249.1:g.1884327G>A, NT_167248.2:g.1839357G>A, NT_167248.1:g.1844953G>A, NT_167245.2:g.1840101G>A, NT_167245.1:g.1845686G>A

Select item 146975180619.

rs1469751806 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30590177 (GRCh38)
6:30557954 (GRCh37)
Canonical SPDI:: NC_000006.12:30590176:T:C
Gene:: ABCF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000006.12:g.30590177T>C, NC_000006.11:g.30557954T>C, NG_047030.1:g.23785T>C, NM_001090.3:c.2148T>C, NM_001090.2:c.2148T>C, NM_001025091.2:c.2262T>C, NM_001025091.1:c.2262T>C, NT_113891.3:g.2069894T>C, NT_113891.2:g.2070000T>C, NT_167247.2:g.1934223T>C, NT_167247.1:g.1939808T>C, NT_167246.2:g.1900406T>C, NT_167246.1:g.1906026T>C, NT_167249.2:g.1890932T>C, NT_167249.1:g.1890230T>C, NT_167248.2:g.1845259T>C, NT_167248.1:g.1850855T>C, NT_167245.2:g.1846003T>C, NT_167245.1:g.1851588T>C

Select item 146922803520.

rs1469228035 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30580464 (GRCh38)
6:30548241 (GRCh37)
Canonical SPDI:: NC_000006.12:30580463:T:C
Gene:: ABCF1 (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 (TOPMED)
HGVS:: NC_000006.12:g.30580464T>C, NC_000006.11:g.30548241T>C, NG_047030.1:g.14072T>C, NM_001090.3:c.623T>C, NM_001090.2:c.623T>C, NM_001025091.2:c.623T>C, NM_001025091.1:c.623T>C, NT_113891.3:g.2060187T>C, NT_113891.2:g.2060293T>C, NT_167247.2:g.1924510T>C, NT_167247.1:g.1930095T>C, NT_167246.2:g.1890693T>C, NT_167246.1:g.1896313T>C, NT_167249.2:g.1881224T>C, NT_167249.1:g.1880522T>C, NT_167248.2:g.1835552T>C, NT_167248.1:g.1841148T>C, NT_167245.2:g.1836295T>C, NT_167245.1:g.1841880T>C, NP_001081.1:p.Ile208Thr, NP_001020262.1:p.Ile208Thr

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Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 768

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