Canonical Allele Identifier: CA803464
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 697103
ClinVar RCV Id: RCV000863799 RCV001683674 RCV003446495 RCV003446496 RCV003446493 RCV003446492 RCV003446494
dbSNP Id: rs770293853
ExAC: 1:43395435 G / A
gnomAD v2: 1-43395435-G-A
gnomAD v3: 1-42929764-G-A
gnomAD v4: 1-42929764-G-A
MyVariant Identifiers: chr1:g.43395435G>A (hg19) chr1:g.42929764G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929764G>A , CM000663.2:g.42929764G>A GRCh38
NC_000001.10:g.43395435G>A , CM000663.1:g.43395435G>A GRCh37
NC_000001.9:g.43168022G>A NCBI36
NG_008232.1:g.34413C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.696C>T MANE Select ENSP00000416293.2:p.Arg232=
ENST00000669445.1:c.57-31C>T
ENST00000674765.1:c.696C>T ENSP00000501811.1:p.Arg232=
ENST00000675112.1:n.719C>T
ENST00000676254.1:n.1145C>T
ENST00000426263.7:c.696C>T ENSP00000416293.2:p.Arg232=
ENST00000439722.2:c.575C>T ENSP00000395521.2:n.575C>T
ENST00000475162.3:c.415+862C>T
ENST00000630287.2:c.*11C>T ENSP00000486694.1:n.*11C>T
NM_006516.2:c.696C>T NP_006507.2:p.Arg232=
NM_006516.3:c.696C>T NP_006507.2:p.Arg232=
NM_006516.4:c.696C>T MANE Select NP_006507.2:p.Arg232=
Search 100 bp 5'
Search 100 bp 3'