Canonical Allele Identifier: CA803398
Gene: SLC2A1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.42929215C>T
GRCh37 chr1:g.43394886C>T
Revel Score:
ENST00000426263 (MANE Select) 0.726
ENST00000372501 0.726
ENST00000397019 0.726
ENST00000439722 0.726
gnomAD v2:
1:43394886 C / T
gnomAD v3:
1:42929215 C / T
gnomAD v4:
chr1-42929215-C-T
Joint Max Group AF 0.00000553 (AMR)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929215C>T , CM000663.2:g.42929215C>T GRCh38
NC_000001.10:g.43394886C>T , CM000663.1:g.43394886C>T GRCh37
NC_000001.9:g.43167473C>T NCBI36
NG_008232.1:g.34962G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.967G>A MANE Select ENSP00000416293.2:p.Val323Met
ENST00000674545.1:n.285G>A
ENST00000674765.1:c.967G>A ENSP00000501811.1:p.Val323Met
ENST00000675112.1:n.1268G>A
ENST00000676254.1:n.1416G>A
ENST00000426263.7:c.967G>A ENSP00000416293.2:p.Val323Met
ENST00000439722.2:c.846G>A ENSP00000395521.2:n.846G>A
ENST00000475162.3:c.415+1411G>A
ENST00000630287.2:c.*282G>A ENSP00000486694.1:n.*282G>A
NM_006516.2:c.967G>A NP_006507.2:p.Val323Met
NM_006516.3:c.967G>A NP_006507.2:p.Val323Met
NM_006516.4:c.967G>A MANE Select NP_006507.2:p.Val323Met
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