Canonical Allele Identifier: CA2809585458

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249030T>G , CM000679.2:g.44249030T>G	GRCh38
NC_000017.10:g.42326398T>G , CM000679.1:g.42326398T>G	GRCh37
NC_000017.9:g.39681924T>G	NCBI36
NG_007498.1:g.24105A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*1428A>C MANE Select	ENSP00000262418.6:n.*1428A>C
ENST00000262418.10:c.*1428A>C	ENSP00000262418.6:n.*1428A>C
ENST00000399246.3:c.*1428A>C	ENSP00000382190.3:n.*1428A>C
ENST00000631130.1:c.*64A>C	ENSP00000486787.1:n.*64A>C
NM_000342.3:c.*1428A>C	NP_000333.1:n.*1428A>C
XM_005257593.3:c.*1428A>C	XP_005257650.1:n.*1428A>C
XM_011525129.1:c.*1428A>C	XP_011523431.1:n.*1428A>C
NM_000342.4:c.*1428A>C MANE Select	NP_000333.1:n.*1428A>C