Canonical Allele Identifier: CA8600487

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44259333A>C , CM000679.2:g.44259333A>C	GRCh38
NC_000017.10:g.42336701A>C , CM000679.1:g.42336701A>C	GRCh37
NC_000017.9:g.39692227A>C	NCBI36
NG_007498.1:g.13802T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.706T>G MANE Select	NP_000333.1:p.Phe236Val
ENST00000262418.12:c.706T>G MANE Select	ENSP00000262418.6:p.Phe236Val
NM_000342.3:c.706T>G	NP_000333.1:p.Phe236Val
ENST00000262418.10:c.706T>G	ENSP00000262418.6:p.Phe236Val
ENST00000399246.3:c.706T>G	ENSP00000382190.3:p.Phe236Val
ENST00000497360.5:n.845T>G
XM_005257593.3:c.511T>G	XP_005257650.1:p.Phe171Val
XM_005257593.5:c.511T>G	XP_005257650.1:p.Phe171Val
XM_011525129.1:c.706T>G	XP_011523431.1:p.Phe236Val
XM_011525129.2:c.706T>G	XP_011523431.1:p.Phe236Val
XM_011525130.1:c.706T>G	XP_011523432.1:p.Phe236Val
XM_011525131.1:c.706T>G	XP_011523433.1:p.Phe236Val