Canonical Allele Identifier: CA339957219

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42929611-C-G
• MyVariant Identifiers: chr1:g.43395282C>G (hg19) ; chr1:g.42929611C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929611C>G , CM000663.2:g.42929611C>G	GRCh38
NC_000001.10:g.43395282C>G , CM000663.1:g.43395282C>G	GRCh37
NC_000001.9:g.43167869C>G	NCBI36
NG_008232.1:g.34566G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.849G>C MANE Select	ENSP00000416293.2:p.Gln283His
ENST00000674765.1:c.849G>C	ENSP00000501811.1:p.Gln283His
ENST00000675112.1:n.872G>C
ENST00000676254.1:n.1298G>C
ENST00000426263.7:c.849G>C	ENSP00000416293.2:p.Gln283His
ENST00000439722.2:c.728G>C	ENSP00000395521.2:n.728G>C
ENST00000475162.3:c.415+1015G>C
ENST00000630287.2:c.*164G>C	ENSP00000486694.1:n.*164G>C
NM_006516.2:c.849G>C	NP_006507.2:p.Gln283His
NM_006516.3:c.849G>C	NP_006507.2:p.Gln283His
NM_006516.4:c.849G>C MANE Select	NP_006507.2:p.Gln283His