Canonical Allele Identifier: CA803284
Gene: SLC2A1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.42927147C>T
GRCh37 chr1:g.43392818C>T
Revel Score:
ENST00000426263 (MANE Select) 0.669
ENST00000397019 0.669
gnomAD v2:
1:43392818 C / T
gnomAD v4:
chr1-42927147-C-T
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV000440623
ClinVar Variation:
380233
dbSNP:
752143706
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927147C>T , CM000663.2:g.42927147C>T GRCh38
NC_000001.10:g.43392818C>T , CM000663.1:g.43392818C>T GRCh37
NC_000001.9:g.43165405C>T NCBI36
NG_008232.1:g.37030G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1373G>A MANE Select ENSP00000416293.2:p.Arg458Gln
ENST00000674545.1:n.1990G>A
ENST00000674765.1:c.1030-290G>A ENSP00000501811.1:n.1030-290G>A
ENST00000675112.1:n.1674G>A
ENST00000676254.1:n.1822G>A
ENST00000426263.7:c.1373G>A ENSP00000416293.2:p.Arg458Gln
ENST00000475162.3:c.416-169G>A
ENST00000630287.2:c.*688G>A ENSP00000486694.1:n.*688G>A
NM_006516.2:c.1373G>A NP_006507.2:p.Arg458Gln
NM_006516.3:c.1373G>A NP_006507.2:p.Arg458Gln
NM_006516.4:c.1373G>A MANE Select NP_006507.2:p.Arg458Gln
Search 100 bp 5'
Search 100 bp 3'