Canonical Allele Identifier: CA2638189682

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44249692-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249692T>C , CM000679.2:g.44249692T>C	GRCh38
NC_000017.10:g.42327060T>C , CM000679.1:g.42327060T>C	GRCh37
NC_000017.9:g.39682586T>C	NCBI36
NG_007498.1:g.23443A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*766A>G MANE Select	ENSP00000262418.6:n.*766A>G
ENST00000262418.10:c.*766A>G	ENSP00000262418.6:n.*766A>G
ENST00000399246.3:c.*766A>G	ENSP00000382190.3:n.*766A>G
ENST00000631130.1:c.-442A>G	ENSP00000486787.1:n.-442A>G
NM_000342.3:c.*766A>G	NP_000333.1:n.*766A>G
XM_005257593.3:c.*766A>G	XP_005257650.1:n.*766A>G
XM_011525129.1:c.*766A>G	XP_011523431.1:n.*766A>G
XM_005257593.5:c.*766A>G	XP_005257650.1:n.*766A>G
XM_011525129.2:c.*766A>G	XP_011523431.1:n.*766A>G
NM_000342.4:c.*766A>G MANE Select	NP_000333.1:n.*766A>G