Canonical Allele Identifier: CA339956762
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449349
ClinVar RCV Id: RCV000761653 RCV001351725 RCV003446133 RCV003446130 RCV003446131 RCV003446132 RCV003446129
dbSNP Id: rs1205631854
gnomAD v2: 1-43394946-C-A
gnomAD v3: 1-42929275-C-A
gnomAD v4: 1-42929275-C-A
MyVariant Identifiers: chr1:g.43394946C>A (hg19) chr1:g.42929275C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929275C>A , CM000663.2:g.42929275C>A GRCh38
NC_000001.10:g.43394946C>A , CM000663.1:g.43394946C>A GRCh37
NC_000001.9:g.43167533C>A NCBI36
NG_008232.1:g.34902G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.907G>T MANE Select ENSP00000416293.2:p.Val303Leu
ENST00000674545.1:n.225G>T
ENST00000674765.1:c.907G>T ENSP00000501811.1:p.Val303Leu
ENST00000675112.1:n.1208G>T
ENST00000676254.1:n.1356G>T
ENST00000426263.7:c.907G>T ENSP00000416293.2:p.Val303Leu
ENST00000439722.2:c.786G>T ENSP00000395521.2:n.786G>T
ENST00000475162.3:c.415+1351G>T
ENST00000630287.2:c.*222G>T ENSP00000486694.1:n.*222G>T
NM_006516.2:c.907G>T NP_006507.2:p.Val303Leu
NM_006516.3:c.907G>T NP_006507.2:p.Val303Leu
NM_006516.4:c.907G>T MANE Select NP_006507.2:p.Val303Leu
Search 100 bp 5'
Search 100 bp 3'