Canonical Allele Identifier: CA318459

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 207207
• ClinVar RCV Id: RCV001049146 ; RCV001705042 ; RCV002252037 ; RCV004553028
• dbSNP Id: rs751573593
• ExAC: 1:43393446 C / T
• gnomAD v2: 1-43393446-C-T
• gnomAD v3: 1-42927775-C-T
• gnomAD v4: 1-42927775-C-T
• COSMIC: COSM3386171
• MyVariant Identifiers: chr1:g.43393446C>T (hg19) ; chr1:g.42927775C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927775C>T , CM000663.2:g.42927775C>T	GRCh38
NC_000001.10:g.43393446C>T , CM000663.1:g.43393446C>T	GRCh37
NC_000001.9:g.43166033C>T	NCBI36
NG_008232.1:g.36402G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1108G>A MANE Select	ENSP00000416293.2:p.Val370Met
ENST00000674545.1:n.1725G>A
ENST00000674765.1:c.1030-918G>A	ENSP00000501811.1:n.1030-918G>A
ENST00000675112.1:n.1409G>A
ENST00000676254.1:n.1557G>A
ENST00000426263.7:c.1108G>A	ENSP00000416293.2:p.Val370Met
ENST00000475162.3:c.416-797G>A
ENST00000630287.2:c.*423G>A	ENSP00000486694.1:n.*423G>A
NM_006516.2:c.1108G>A	NP_006507.2:p.Val370Met
NM_006516.3:c.1108G>A	NP_006507.2:p.Val370Met
NM_006516.4:c.1108G>A MANE Select	NP_006507.2:p.Val370Met