Canonical Allele Identifier: CA803326
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2737201
ClinVar RCV Id: RCV003518829
dbSNP Id: rs374789687
ExAC: 1:43393344 T / C
gnomAD v2: 1-43393344-T-C
gnomAD v3: 1-42927673-T-C
gnomAD v4: 1-42927673-T-C
MyVariant Identifiers: chr1:g.43393344T>C (hg19) chr1:g.42927673T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927673T>C , CM000663.2:g.42927673T>C GRCh38
NC_000001.10:g.43393344T>C , CM000663.1:g.43393344T>C GRCh37
NC_000001.9:g.43165931T>C NCBI36
NG_008232.1:g.36504A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1210A>G MANE Select ENSP00000416293.2:p.Ile404Val
ENST00000674545.1:n.1827A>G
ENST00000674765.1:c.1030-816A>G ENSP00000501811.1:n.1030-816A>G
ENST00000675112.1:n.1511A>G
ENST00000676254.1:n.1659A>G
ENST00000426263.7:c.1210A>G ENSP00000416293.2:p.Ile404Val
ENST00000475162.3:c.416-695A>G
ENST00000630287.2:c.*525A>G ENSP00000486694.1:n.*525A>G
NM_006516.2:c.1210A>G NP_006507.2:p.Ile404Val
NM_006516.3:c.1210A>G NP_006507.2:p.Ile404Val
NM_006516.4:c.1210A>G MANE Select NP_006507.2:p.Ile404Val
Search 100 bp 5'
Search 100 bp 3'