Canonical Allele Identifier: CA803336
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 772934
ClinVar RCV Id: RCV000952594 RCV001575044 RCV003446553 RCV003446554 RCV003446555 RCV003446552 RCV003446556
dbSNP Id: rs145962512
ExAC: 1:43393447 G / A
gnomAD v2: 1-43393447-G-A
gnomAD v3: 1-42927776-G-A
gnomAD v4: 1-42927776-G-A
MyVariant Identifiers: chr1:g.43393447G>A (hg19) chr1:g.42927776G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927776G>A , CM000663.2:g.42927776G>A GRCh38
NC_000001.10:g.43393447G>A , CM000663.1:g.43393447G>A GRCh37
NC_000001.9:g.43166034G>A NCBI36
NG_008232.1:g.36401C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1107C>T MANE Select ENSP00000416293.2:p.Ile369=
ENST00000674545.1:n.1724C>T
ENST00000674765.1:c.1030-919C>T ENSP00000501811.1:n.1030-919C>T
ENST00000675112.1:n.1408C>T
ENST00000676254.1:n.1556C>T
ENST00000426263.7:c.1107C>T ENSP00000416293.2:p.Ile369=
ENST00000475162.3:c.416-798C>T
ENST00000630287.2:c.*422C>T ENSP00000486694.1:n.*422C>T
NM_006516.2:c.1107C>T NP_006507.2:p.Ile369=
NM_006516.3:c.1107C>T NP_006507.2:p.Ile369=
NM_006516.4:c.1107C>T MANE Select NP_006507.2:p.Ile369=
Search 100 bp 5'
Search 100 bp 3'