Canonical Allele Identifier: CA318477
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207216
dbSNP Id: rs572648977
gnomAD v2: 1-43392783-C-G
gnomAD v3: 1-42927112-C-G
gnomAD v4: 1-42927112-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927112C>G , CM000663.2:g.42927112C>G GRCh38
NC_000001.10:g.43392783C>G , CM000663.1:g.43392783C>G GRCh37
NC_000001.9:g.43165370C>G NCBI36
NG_008232.1:g.37065G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1408G>C MANE Select ENSP00000416293.2:p.Gly470Arg
ENST00000674545.1:n.2025G>C
ENST00000674765.1:c.1030-255G>C ENSP00000501811.1:n.1030-255G>C
ENST00000675112.1:n.1709G>C
ENST00000676254.1:n.1857G>C
ENST00000426263.7:c.1408G>C ENSP00000416293.2:p.Gly470Arg
ENST00000475162.3:c.416-134G>C
ENST00000630287.2:c.*723G>C ENSP00000486694.1:n.*723G>C
NM_006516.2:c.1408G>C NP_006507.2:p.Gly470Arg
NM_006516.3:c.1408G>C NP_006507.2:p.Gly470Arg
NM_006516.4:c.1408G>C MANE Select NP_006507.2:p.Gly470Arg