Canonical Allele Identifier: CA399783292

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42331982C>A (hg19) ; chr17:g.44254614C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254614C>A , CM000679.2:g.44254614C>A	GRCh38
NC_000017.10:g.42331982C>A , CM000679.1:g.42331982C>A	GRCh37
NC_000017.9:g.39687508C>A	NCBI36
NG_007498.1:g.18521G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1939G>T MANE Select	ENSP00000262418.6:p.Gly647Cys
ENST00000262418.10:c.1939G>T	ENSP00000262418.6:p.Gly647Cys
ENST00000399246.3:c.841G>T	ENSP00000382190.3:p.Gly281Cys
NM_000342.3:c.1939G>T	NP_000333.1:p.Gly647Cys
XM_005257593.3:c.1744G>T	XP_005257650.1:p.Gly582Cys
XM_011525129.1:c.1849G>T	XP_011523431.1:p.Gly617Cys
XM_011525130.1:c.1939G>T	XP_011523432.1:p.Gly647Cys
XM_011525131.1:c.1939G>T	XP_011523433.1:p.Gly647Cys
XM_005257593.5:c.1744G>T	XP_005257650.1:p.Gly582Cys
XM_011525129.2:c.1849G>T	XP_011523431.1:p.Gly617Cys
NM_000342.4:c.1939G>T MANE Select	NP_000333.1:p.Gly647Cys