Canonical Allele Identifier: CA417409080
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1135366
ClinVar RCV Id: RCV001470629
dbSNP Id: rs1643460979
MyVariant Identifiers: chr1:g.43394932C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929261C>G , CM000663.2:g.42929261C>G GRCh38
NC_000001.10:g.43394932C>G , CM000663.1:g.43394932C>G GRCh37
NC_000001.9:g.43167519C>G NCBI36
NG_008232.1:g.34916G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.921G>C MANE Select ENSP00000416293.2:p.Val307=
ENST00000674545.1:n.239G>C
ENST00000674765.1:c.921G>C ENSP00000501811.1:p.Val307=
ENST00000675112.1:n.1222G>C
ENST00000676254.1:n.1370G>C
ENST00000426263.7:c.921G>C ENSP00000416293.2:p.Val307=
ENST00000439722.2:c.800G>C ENSP00000395521.2:n.800G>C
ENST00000475162.3:c.415+1365G>C
ENST00000630287.2:c.*236G>C ENSP00000486694.1:n.*236G>C
NM_006516.2:c.921G>C NP_006507.2:p.Val307=
NM_006516.3:c.921G>C NP_006507.2:p.Val307=
NM_006516.4:c.921G>C MANE Select NP_006507.2:p.Val307=