Canonical Allele Identifier: CA803458

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2070487
• ClinVar RCV Id: RCV002959100
• dbSNP Id: rs777498634
• ExAC: 1:43395373 C / T
• gnomAD v2: 1-43395373-C-T
• gnomAD v3: 1-42929702-C-T
• gnomAD v4: 1-42929702-C-T
• COSMIC: COSM4727023 ; COSM4727024
• MyVariant Identifiers: chr1:g.43395373C>T (hg19) ; chr1:g.42929702C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929702C>T , CM000663.2:g.42929702C>T	GRCh38
NC_000001.10:g.43395373C>T , CM000663.1:g.43395373C>T	GRCh37
NC_000001.9:g.43167960C>T	NCBI36
NG_008232.1:g.34475G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.758G>A MANE Select	ENSP00000416293.2:p.Arg253Gln
ENST00000669445.1:c.88G>A
ENST00000674765.1:c.758G>A	ENSP00000501811.1:p.Arg253Gln
ENST00000675112.1:n.781G>A
ENST00000676254.1:n.1207G>A
ENST00000426263.7:c.758G>A	ENSP00000416293.2:p.Arg253Gln
ENST00000439722.2:c.637G>A	ENSP00000395521.2:n.637G>A
ENST00000475162.3:c.415+924G>A
ENST00000630287.2:c.*73G>A	ENSP00000486694.1:n.*73G>A
NM_006516.2:c.758G>A	NP_006507.2:p.Arg253Gln
NM_006516.3:c.758G>A	NP_006507.2:p.Arg253Gln
NM_006516.4:c.758G>A MANE Select	NP_006507.2:p.Arg253Gln