Canonical Allele Identifier: CA215059

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44253228T>C , CM000679.2:g.44253228T>C	GRCh38
NC_000017.10:g.42330596T>C , CM000679.1:g.42330596T>C	GRCh37
NC_000017.9:g.39686122T>C	NCBI36
NG_007498.1:g.19907A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.2201A>G MANE Select	NP_000333.1:p.His734Arg
ENST00000262418.12:c.2201A>G MANE Select	ENSP00000262418.6:p.His734Arg
NM_000342.3:c.2201A>G	NP_000333.1:p.His734Arg
ENST00000262418.10:c.2201A>G	ENSP00000262418.6:p.His734Arg
ENST00000399246.3:c.1103A>G	ENSP00000382190.3:p.His368Arg
XM_005257593.3:c.2006A>G	XP_005257650.1:p.His669Arg
XM_005257593.5:c.2006A>G	XP_005257650.1:p.His669Arg
XM_011525129.1:c.2111A>G	XP_011523431.1:p.His704Arg
XM_011525129.2:c.2111A>G	XP_011523431.1:p.His704Arg
XM_011525130.1:c.2201A>G	XP_011523432.1:p.His734Arg