Canonical Allele Identifier: CA10639799
Gene: SLC4A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.44253219G>A
GRCh37 chr17:g.42330587G>A
Revel Score:
ENST00000262418 (MANE Select) 0.817
gnomAD v2:
17:42330587 G / A
gnomAD v3:
17:44253219 G / A
gnomAD v4:
chr17-44253219-G-A
Joint Max Group AF 0.00000292 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44253219G>A , CM000679.2:g.44253219G>A GRCh38
NC_000017.10:g.42330587G>A , CM000679.1:g.42330587G>A GRCh37
NC_000017.9:g.39686113G>A NCBI36
NG_007498.1:g.19916C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.2210C>T MANE Select ENSP00000262418.6:p.Ala737Val
ENST00000262418.10:c.2210C>T ENSP00000262418.6:p.Ala737Val
ENST00000399246.3:c.1112C>T ENSP00000382190.3:p.Ala371Val
NM_000342.3:c.2210C>T NP_000333.1:p.Ala737Val
XM_005257593.3:c.2015C>T XP_005257650.1:p.Ala672Val
XM_011525129.1:c.2120C>T XP_011523431.1:p.Ala707Val
XM_011525130.1:c.2210C>T XP_011523432.1:p.Ala737Val
XM_005257593.5:c.2015C>T XP_005257650.1:p.Ala672Val
XM_011525129.2:c.2120C>T XP_011523431.1:p.Ala707Val
NM_000342.4:c.2210C>T MANE Select NP_000333.1:p.Ala737Val
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