Canonical Allele Identifier: CA8600298

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44257759G>T , CM000679.2:g.44257759G>T	GRCh38
NC_000017.10:g.42335127G>T , CM000679.1:g.42335127G>T	GRCh37
NC_000017.9:g.39690653G>T	NCBI36
NG_007498.1:g.15376C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.1331C>A MANE Select	NP_000333.1:p.Thr444Asn
ENST00000262418.12:c.1331C>A MANE Select	ENSP00000262418.6:p.Thr444Asn
NM_000342.3:c.1331C>A	NP_000333.1:p.Thr444Asn
ENST00000262418.10:c.1331C>A	ENSP00000262418.6:p.Thr444Asn
ENST00000399246.3:c.777+1503C>A	ENSP00000382190.3:n.777+1503C>A
ENST00000497360.5:n.1470C>A
XM_005257593.3:c.1136C>A	XP_005257650.1:p.Thr379Asn
XM_005257593.5:c.1136C>A	XP_005257650.1:p.Thr379Asn
XM_011525129.1:c.1331C>A	XP_011523431.1:p.Thr444Asn
XM_011525129.2:c.1331C>A	XP_011523431.1:p.Thr444Asn
XM_011525130.1:c.1331C>A	XP_011523432.1:p.Thr444Asn
XM_011525131.1:c.1331C>A	XP_011523433.1:p.Thr444Asn