Canonical Allele Identifier: CA803452
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 876778
ClinVar RCV Id: RCV001101943 RCV001101944 RCV002556048 RCV003446628 RCV003446630 RCV003446629
dbSNP Id: rs201996220
ExAC: 1:43395333 G / A
gnomAD v2: 1-43395333-G-A
gnomAD v3: 1-42929662-G-A
gnomAD v4: 1-42929662-G-A
MyVariant Identifiers: chr1:g.43395333G>A (hg19) chr1:g.42929662G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929662G>A , CM000663.2:g.42929662G>A GRCh38
NC_000001.10:g.43395333G>A , CM000663.1:g.43395333G>A GRCh37
NC_000001.9:g.43167920G>A NCBI36
NG_008232.1:g.34515C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.798C>T MANE Select ENSP00000416293.2:p.Pro266=
ENST00000669445.1:c.128C>T
ENST00000674765.1:c.798C>T ENSP00000501811.1:p.Pro266=
ENST00000675112.1:n.821C>T
ENST00000676254.1:n.1247C>T
ENST00000426263.7:c.798C>T ENSP00000416293.2:p.Pro266=
ENST00000439722.2:c.677C>T ENSP00000395521.2:n.677C>T
ENST00000475162.3:c.415+964C>T
ENST00000630287.2:c.*113C>T ENSP00000486694.1:n.*113C>T
NM_006516.2:c.798C>T NP_006507.2:p.Pro266=
NM_006516.3:c.798C>T NP_006507.2:p.Pro266=
NM_006516.4:c.798C>T MANE Select NP_006507.2:p.Pro266=
Search 100 bp 5'
Search 100 bp 3'