Canonical Allele Identifier: CA8600463

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44259251C>T , CM000679.2:g.44259251C>T	GRCh38
NC_000017.10:g.42336619C>T , CM000679.1:g.42336619C>T	GRCh37
NC_000017.9:g.39692145C>T	NCBI36
NG_007498.1:g.13884G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.788G>A MANE Select	NP_000333.1:p.Arg263His
ENST00000262418.12:c.788G>A MANE Select	ENSP00000262418.6:p.Arg263His
NM_000342.3:c.788G>A	NP_000333.1:p.Arg263His
ENST00000262418.10:c.788G>A	ENSP00000262418.6:p.Arg263His
ENST00000399246.3:c.777+11G>A	ENSP00000382190.3:n.777+11G>A
ENST00000497360.5:n.927G>A
XM_005257593.3:c.593G>A	XP_005257650.1:p.Arg198His
XM_005257593.5:c.593G>A	XP_005257650.1:p.Arg198His
XM_011525129.1:c.788G>A	XP_011523431.1:p.Arg263His
XM_011525129.2:c.788G>A	XP_011523431.1:p.Arg263His
XM_011525130.1:c.788G>A	XP_011523432.1:p.Arg263His
XM_011525131.1:c.788G>A	XP_011523433.1:p.Arg263His