Canonical Allele Identifier: CA399785930

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44257508G>A , CM000679.2:g.44257508G>A	GRCh38
NC_000017.10:g.42334876G>A , CM000679.1:g.42334876G>A	GRCh37
NC_000017.9:g.39690402G>A	NCBI36
NG_007498.1:g.15627C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.1468C>T MANE Select	NP_000333.1:p.Arg490Cys
ENST00000262418.12:c.1468C>T MANE Select	ENSP00000262418.6:p.Arg490Cys
NM_000342.3:c.1468C>T	NP_000333.1:p.Arg490Cys
ENST00000262418.10:c.1468C>T	ENSP00000262418.6:p.Arg490Cys
ENST00000399246.3:c.777+1754C>T	ENSP00000382190.3:n.777+1754C>T
ENST00000497360.5:n.1607C>T
XM_005257593.3:c.1273C>T	XP_005257650.1:p.Arg425Cys
XM_005257593.5:c.1273C>T	XP_005257650.1:p.Arg425Cys
XM_011525129.1:c.1468C>T	XP_011523431.1:p.Arg490Cys
XM_011525129.2:c.1468C>T	XP_011523431.1:p.Arg490Cys
XM_011525130.1:c.1468C>T	XP_011523432.1:p.Arg490Cys
XM_011525131.1:c.1468C>T	XP_011523433.1:p.Arg490Cys