Canonical Allele Identifier: CA803482

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1046974
• ClinVar RCV Id: RCV002476616 ; RCV003446716 ; RCV003446717 ; RCV003446718 ; RCV003446719 ; RCV003446720
• dbSNP Id: rs771386274
• ExAC: 1:43395539 C / T
• gnomAD v2: 1-43395539-C-T
• gnomAD v3: 1-42929868-C-T
• gnomAD v4: 1-42929868-C-T
• MyVariant Identifiers: chr1:g.43395539C>T (hg19) ; chr1:g.42929868C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929868C>T , CM000663.2:g.42929868C>T	GRCh38
NC_000001.10:g.43395539C>T , CM000663.1:g.43395539C>T	GRCh37
NC_000001.9:g.43168126C>T	NCBI36
NG_008232.1:g.34309G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.679+5G>A MANE Select	ENSP00000416293.2:n.679+5G>A
ENST00000669445.1:c.56+5G>A
ENST00000674765.1:c.679+5G>A	ENSP00000501811.1:n.679+5G>A
ENST00000675112.1:n.702+5G>A
ENST00000676254.1:n.1128+5G>A
ENST00000426263.7:c.679+5G>A	ENSP00000416293.2:n.679+5G>A
ENST00000439722.2:c.558+5G>A	ENSP00000395521.2:n.558+5G>A
ENST00000475162.3:c.415+758G>A
ENST00000630287.2:c.517-88G>A	ENSP00000486694.1:n.517-88G>A
NM_006516.2:c.679+5G>A	NP_006507.2:n.679+5G>A
NM_006516.3:c.679+5G>A	NP_006507.2:n.679+5G>A
NM_006516.4:c.679+5G>A MANE Select	NP_006507.2:n.679+5G>A