Canonical Allele Identifier: CA318469
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207212
ClinVar RCV Id: RCV000189378 RCV000463311 RCV001267280
dbSNP Id: rs796053263
gnomAD v4: 1-42927685-G-A
COSMIC: COSM5846720
MyVariant Identifiers: chr1:g.43393356G>A (hg19) chr1:g.42927685G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927685G>A , CM000663.2:g.42927685G>A GRCh38
NC_000001.10:g.43393356G>A , CM000663.1:g.43393356G>A GRCh37
NC_000001.9:g.43165943G>A NCBI36
NG_008232.1:g.36492C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.1198C>T MANE Select ENSP00000416293.2:p.Arg400Cys
ENST00000674545.1:n.1815C>T
ENST00000674765.1:c.1030-828C>T ENSP00000501811.1:n.1030-828C>T
ENST00000675112.1:n.1499C>T
ENST00000676254.1:n.1647C>T
ENST00000426263.7:c.1198C>T ENSP00000416293.2:p.Arg400Cys
ENST00000475162.3:c.416-707C>T
ENST00000630287.2:c.*513C>T ENSP00000486694.1:n.*513C>T
NM_006516.2:c.1198C>T NP_006507.2:p.Arg400Cys
NM_006516.3:c.1198C>T NP_006507.2:p.Arg400Cys
NM_006516.4:c.1198C>T MANE Select NP_006507.2:p.Arg400Cys
Search 100 bp 5'
Search 100 bp 3'