Canonical Allele Identifier: CA318463
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207209
ClinVar RCV Id: RCV000189375 RCV003147392 RCV003445660 RCV003445657 RCV003445658 RCV003445659
dbSNP Id: rs796053260
COSMIC: COSM6382640
MyVariant Identifiers: chr1:g.43393428C>T (hg19) chr1:g.42927757C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927757C>T , CM000663.2:g.42927757C>T GRCh38
NC_000001.10:g.43393428C>T , CM000663.1:g.43393428C>T GRCh37
NC_000001.9:g.43166015C>T NCBI36
NG_008232.1:g.36420G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1126G>A MANE Select ENSP00000416293.2:p.Val376Met
ENST00000674545.1:n.1743G>A
ENST00000674765.1:c.1030-900G>A ENSP00000501811.1:n.1030-900G>A
ENST00000675112.1:n.1427G>A
ENST00000676254.1:n.1575G>A
ENST00000426263.7:c.1126G>A ENSP00000416293.2:p.Val376Met
ENST00000475162.3:c.416-779G>A
ENST00000630287.2:c.*441G>A ENSP00000486694.1:n.*441G>A
NM_006516.2:c.1126G>A NP_006507.2:p.Val376Met
NM_006516.3:c.1126G>A NP_006507.2:p.Val376Met
NM_006516.4:c.1126G>A MANE Select NP_006507.2:p.Val376Met
Search 100 bp 5'
Search 100 bp 3'