Canonical Allele Identifier: CA399782699

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42331916G>C (hg19) ; chr17:g.44254548G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254548G>C , CM000679.2:g.44254548G>C	GRCh38
NC_000017.10:g.42331916G>C , CM000679.1:g.42331916G>C	GRCh37
NC_000017.9:g.39687442G>C	NCBI36
NG_007498.1:g.18587C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2005C>G MANE Select	ENSP00000262418.6:p.Leu669Val
ENST00000262418.10:c.2005C>G	ENSP00000262418.6:p.Leu669Val
ENST00000399246.3:c.907C>G	ENSP00000382190.3:p.Leu303Val
NM_000342.3:c.2005C>G	NP_000333.1:p.Leu669Val
XM_005257593.3:c.1810C>G	XP_005257650.1:p.Leu604Val
XM_011525129.1:c.1915C>G	XP_011523431.1:p.Leu639Val
XM_011525130.1:c.2005C>G	XP_011523432.1:p.Leu669Val
XM_011525131.1:c.2005C>G	XP_011523433.1:p.Leu669Val
XM_005257593.5:c.1810C>G	XP_005257650.1:p.Leu604Val
XM_011525129.2:c.1915C>G	XP_011523431.1:p.Leu639Val
NM_000342.4:c.2005C>G MANE Select	NP_000333.1:p.Leu669Val