Canonical Allele Identifier: CA803597
Gene: SLC2A1 HGNC NCBI
ClinVar RCV:
RCV000476696
RCV000763915
RCV001580496
RCV002523299
RCV003989532
ClinVar Variation:
406880
dbSNP:
200828053
gnomAD v2:
1:43396804 G / A
gnomAD v3:
1:42931133 G / A
gnomAD v4:
chr1-42931133-G-A
Joint Max Group AF 0.00001107 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00000931 (NFE)
MyVariant.info:
GRCh38 chr1:g.42931133G>A
GRCh37 chr1:g.43396804G>A
Revel Score:
ENST00000426263 (MANE Select) 0.174
ENST00000372501 0.174
ENST00000397019 0.174
ENST00000415851 0.174
ENST00000372500 0.174
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42931133G>A , CM000663.2:g.42931133G>A GRCh38
NC_000001.10:g.43396804G>A , CM000663.1:g.43396804G>A GRCh37
NC_000001.9:g.43169391G>A NCBI36
NG_008232.1:g.33044C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.188C>T MANE Select ENSP00000416293.2:p.Thr63Met
ENST00000674765.1:c.188C>T ENSP00000501811.1:p.Thr63Met
ENST00000675112.1:n.211C>T
ENST00000676254.1:n.637C>T
ENST00000372500.4:c.92C>T ENSP00000361578.4:p.Thr31Met
ENST00000415851.6:n.405C>T
ENST00000426263.7:c.188C>T ENSP00000416293.2:p.Thr63Met
ENST00000475162.3:c.87C>T
ENST00000625233.2:n.396C>T
ENST00000630287.2:c.188C>T ENSP00000486694.1:p.Thr63Met
NM_006516.2:c.188C>T NP_006507.2:p.Thr63Met
NM_006516.3:c.188C>T NP_006507.2:p.Thr63Met
NM_006516.4:c.188C>T MANE Select NP_006507.2:p.Thr63Met
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