Canonical Allele Identifier: CA417543426

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2902840
• ClinVar RCV Id: RCV003632673
• dbSNP Id: rs1643467411
• gnomAD v4: 1-42929743-A-G
• MyVariant Identifiers: chr1:g.43395414A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929743A>G , CM000663.2:g.42929743A>G	GRCh38
NC_000001.10:g.43395414A>G , CM000663.1:g.43395414A>G	GRCh37
NC_000001.9:g.43168001A>G	NCBI36
NG_008232.1:g.34434T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.717T>C MANE Select	ENSP00000416293.2:p.His239=
ENST00000669445.1:c.57-10T>C
ENST00000674765.1:c.717T>C	ENSP00000501811.1:p.His239=
ENST00000675112.1:n.740T>C
ENST00000676254.1:n.1166T>C
ENST00000426263.7:c.717T>C	ENSP00000416293.2:p.His239=
ENST00000439722.2:c.596T>C	ENSP00000395521.2:n.596T>C
ENST00000475162.3:c.415+883T>C
ENST00000630287.2:c.*32T>C	ENSP00000486694.1:n.*32T>C
NM_006516.2:c.717T>C	NP_006507.2:p.His239=
NM_006516.3:c.717T>C	NP_006507.2:p.His239=
NM_006516.4:c.717T>C MANE Select	NP_006507.2:p.His239=