Canonical Allele Identifier: CA339956726

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1643461089
• gnomAD v3: 1-42929270-C-A
• gnomAD v4: 1-42929270-C-A
• MyVariant Identifiers: chr1:g.43394941C>A (hg19) ; chr1:g.42929270C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929270C>A , CM000663.2:g.42929270C>A	GRCh38
NC_000001.10:g.43394941C>A , CM000663.1:g.43394941C>A	GRCh37
NC_000001.9:g.43167528C>A	NCBI36
NG_008232.1:g.34907G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.912G>T MANE Select	ENSP00000416293.2:p.Gln304His
ENST00000674545.1:n.230G>T
ENST00000674765.1:c.912G>T	ENSP00000501811.1:p.Gln304His
ENST00000675112.1:n.1213G>T
ENST00000676254.1:n.1361G>T
ENST00000426263.7:c.912G>T	ENSP00000416293.2:p.Gln304His
ENST00000439722.2:c.791G>T	ENSP00000395521.2:n.791G>T
ENST00000475162.3:c.415+1356G>T
ENST00000630287.2:c.*227G>T	ENSP00000486694.1:n.*227G>T
NM_006516.2:c.912G>T	NP_006507.2:p.Gln304His
NM_006516.3:c.912G>T	NP_006507.2:p.Gln304His
NM_006516.4:c.912G>T MANE Select	NP_006507.2:p.Gln304His