Canonical Allele Identifier: CA318459
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207207
ClinVar RCV Id: RCV001049146 RCV001705042 RCV002252037 RCV004553028
dbSNP Id: rs751573593
ExAC: 1:43393446 C / T
gnomAD v2: 1-43393446-C-T
gnomAD v3: 1-42927775-C-T
gnomAD v4: 1-42927775-C-T
COSMIC: COSM3386171
MyVariant Identifiers: chr1:g.43393446C>T (hg19) chr1:g.42927775C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927775C>T , CM000663.2:g.42927775C>T GRCh38
NC_000001.10:g.43393446C>T , CM000663.1:g.43393446C>T GRCh37
NC_000001.9:g.43166033C>T NCBI36
NG_008232.1:g.36402G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1108G>A MANE Select ENSP00000416293.2:p.Val370Met
ENST00000674545.1:n.1725G>A
ENST00000674765.1:c.1030-918G>A ENSP00000501811.1:n.1030-918G>A
ENST00000675112.1:n.1409G>A
ENST00000676254.1:n.1557G>A
ENST00000426263.7:c.1108G>A ENSP00000416293.2:p.Val370Met
ENST00000475162.3:c.416-797G>A
ENST00000630287.2:c.*423G>A ENSP00000486694.1:n.*423G>A
NM_006516.2:c.1108G>A NP_006507.2:p.Val370Met
NM_006516.3:c.1108G>A NP_006507.2:p.Val370Met
NM_006516.4:c.1108G>A MANE Select NP_006507.2:p.Val370Met
Search 100 bp 5'
Search 100 bp 3'