Canonical Allele Identifier: CA399782697

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42331915A>T (hg19) ; chr17:g.44254547A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254547A>T , CM000679.2:g.44254547A>T	GRCh38
NC_000017.10:g.42331915A>T , CM000679.1:g.42331915A>T	GRCh37
NC_000017.9:g.39687441A>T	NCBI36
NG_007498.1:g.18588T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2006T>A MANE Select	ENSP00000262418.6:p.Leu669Gln
ENST00000262418.10:c.2006T>A	ENSP00000262418.6:p.Leu669Gln
ENST00000399246.3:c.908T>A	ENSP00000382190.3:p.Leu303Gln
NM_000342.3:c.2006T>A	NP_000333.1:p.Leu669Gln
XM_005257593.3:c.1811T>A	XP_005257650.1:p.Leu604Gln
XM_011525129.1:c.1916T>A	XP_011523431.1:p.Leu639Gln
XM_011525130.1:c.2006T>A	XP_011523432.1:p.Leu669Gln
XM_011525131.1:c.2006T>A	XP_011523433.1:p.Leu669Gln
XM_005257593.5:c.1811T>A	XP_005257650.1:p.Leu604Gln
XM_011525129.2:c.1916T>A	XP_011523431.1:p.Leu639Gln
NM_000342.4:c.2006T>A MANE Select	NP_000333.1:p.Leu669Gln