Canonical Allele Identifier: CA318493
Gene: SLC2A1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.42929655G>A
GRCh37 chr1:g.43395326G>A
Revel Score:
ENST00000426263 (MANE Select) 0.886
ENST00000372501 0.886
ENST00000397019 0.886
ENST00000439722 0.886
gnomAD v2:
1:43395326 G / A
gnomAD v3:
1:42929655 G / A
gnomAD v4:
chr1-42929655-G-A
Joint Max Group AF 0.00005545 (NFE)
Genomes Max Group AF 0.00010174 (NFE)
Exomes Max Group AF 0.000049 (NFE)
ClinVar RCV:
RCV001450120
RCV001532531
ClinVar Variation:
207228
dbSNP:
200247956
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929655G>A , CM000663.2:g.42929655G>A GRCh38
NC_000001.10:g.43395326G>A , CM000663.1:g.43395326G>A GRCh37
NC_000001.9:g.43167913G>A NCBI36
NG_008232.1:g.34522C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.805C>T MANE Select ENSP00000416293.2:p.Arg269Cys
ENST00000669445.1:c.135C>T
ENST00000674765.1:c.805C>T ENSP00000501811.1:p.Arg269Cys
ENST00000675112.1:n.828C>T
ENST00000676254.1:n.1254C>T
ENST00000426263.7:c.805C>T ENSP00000416293.2:p.Arg269Cys
ENST00000439722.2:c.684C>T ENSP00000395521.2:n.684C>T
ENST00000475162.3:c.415+971C>T
ENST00000630287.2:c.*120C>T ENSP00000486694.1:n.*120C>T
NM_006516.2:c.805C>T NP_006507.2:p.Arg269Cys
NM_006516.3:c.805C>T NP_006507.2:p.Arg269Cys
NM_006516.4:c.805C>T MANE Select NP_006507.2:p.Arg269Cys
Search 100 bp 5'
Search 100 bp 3'