Canonical Allele Identifier: CA290925289

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44251477C>T , CM000679.2:g.44251477C>T	GRCh38
NC_000017.10:g.42328845C>T , CM000679.1:g.42328845C>T	GRCh37
NC_000017.9:g.39684371C>T	NCBI36
NG_007498.1:g.21658G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.2423G>A MANE Select	NP_000333.1:p.Arg808His
ENST00000262418.12:c.2423G>A MANE Select	ENSP00000262418.6:p.Arg808His
NM_000342.3:c.2423G>A	NP_000333.1:p.Arg808His
ENST00000262418.10:c.2423G>A	ENSP00000262418.6:p.Arg808His
ENST00000399246.3:c.1325G>A	ENSP00000382190.3:p.Arg442His
XM_005257593.3:c.2228G>A	XP_005257650.1:p.Arg743His
XM_005257593.5:c.2228G>A	XP_005257650.1:p.Arg743His
XM_011525129.1:c.2333G>A	XP_011523431.1:p.Arg778His
XM_011525129.2:c.2333G>A	XP_011523431.1:p.Arg778His