Canonical Allele Identifier: CA10650256
Gene: SLC4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 323482
ClinVar RCV Id: RCV000268144 RCV000304672 RCV000362693
dbSNP Id: rs886052991
gnomAD v3: 17-44249142-G-A
gnomAD v4: 17-44249142-G-A
MyVariant Identifiers: chr17:g.42326510G>A (hg19) chr17:g.44249142G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44249142G>A , CM000679.2:g.44249142G>A GRCh38
NC_000017.10:g.42326510G>A , CM000679.1:g.42326510G>A GRCh37
NC_000017.9:g.39682036G>A NCBI36
NG_007498.1:g.23993C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262418.12:c.*1316C>T MANE Select ENSP00000262418.6:n.*1316C>T
ENST00000262418.10:c.*1316C>T ENSP00000262418.6:n.*1316C>T
ENST00000399246.3:c.*1316C>T ENSP00000382190.3:n.*1316C>T
ENST00000631130.1:c.63C>T ENSP00000486787.1:p.His21=
NM_000342.3:c.*1316C>T NP_000333.1:n.*1316C>T
XM_005257593.3:c.*1316C>T XP_005257650.1:n.*1316C>T
XM_011525129.1:c.*1316C>T XP_011523431.1:n.*1316C>T
NM_000342.4:c.*1316C>T MANE Select NP_000333.1:n.*1316C>T
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