Canonical Allele Identifier: CA399783193

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42331975A>C (hg19) ; chr17:g.44254607A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254607A>C , CM000679.2:g.44254607A>C	GRCh38
NC_000017.10:g.42331975A>C , CM000679.1:g.42331975A>C	GRCh37
NC_000017.9:g.39687501A>C	NCBI36
NG_007498.1:g.18528T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1946T>G MANE Select	ENSP00000262418.6:p.Val649Gly
ENST00000262418.10:c.1946T>G	ENSP00000262418.6:p.Val649Gly
ENST00000399246.3:c.848T>G	ENSP00000382190.3:p.Val283Gly
NM_000342.3:c.1946T>G	NP_000333.1:p.Val649Gly
XM_005257593.3:c.1751T>G	XP_005257650.1:p.Val584Gly
XM_011525129.1:c.1856T>G	XP_011523431.1:p.Val619Gly
XM_011525130.1:c.1946T>G	XP_011523432.1:p.Val649Gly
XM_011525131.1:c.1946T>G	XP_011523433.1:p.Val649Gly
XM_005257593.5:c.1751T>G	XP_005257650.1:p.Val584Gly
XM_011525129.2:c.1856T>G	XP_011523431.1:p.Val619Gly
NM_000342.4:c.1946T>G MANE Select	NP_000333.1:p.Val649Gly