Canonical Allele Identifier: CA399795791

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44260665G>A , CM000679.2:g.44260665G>A	GRCh38
NC_000017.10:g.42338033G>A , CM000679.1:g.42338033G>A	GRCh37
NC_000017.9:g.39693559G>A	NCBI36
NG_007498.1:g.12470C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.319C>T MANE Select	NP_000333.1:p.Leu107Phe
ENST00000262418.12:c.319C>T MANE Select	ENSP00000262418.6:p.Leu107Phe
NM_000342.3:c.319C>T	NP_000333.1:p.Leu107Phe
ENST00000262418.10:c.319C>T	ENSP00000262418.6:p.Leu107Phe
ENST00000399246.3:c.319C>T	ENSP00000382190.3:p.Leu107Phe
ENST00000471005.5:n.253C>T
ENST00000497360.5:n.458C>T
XM_005257593.3:c.124C>T	XP_005257650.1:p.Leu42Phe
XM_005257593.5:c.124C>T	XP_005257650.1:p.Leu42Phe
XM_011525129.1:c.319C>T	XP_011523431.1:p.Leu107Phe
XM_011525129.2:c.319C>T	XP_011523431.1:p.Leu107Phe
XM_011525130.1:c.319C>T	XP_011523432.1:p.Leu107Phe
XM_011525131.1:c.319C>T	XP_011523433.1:p.Leu107Phe