Canonical Allele Identifier: CA019033
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159923
ClinVar RCV Id: RCV000147521
dbSNP Id: rs587784392
gnomAD v3: 1-42927615-T-C
gnomAD v4: 1-42927615-T-C
MyVariant Identifiers: chr1:g.43393286T>C (hg19) chr1:g.42927615T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927615T>C , CM000663.2:g.42927615T>C GRCh38
NC_000001.10:g.43393286T>C , CM000663.1:g.43393286T>C GRCh37
NC_000001.9:g.43165873T>C NCBI36
NG_008232.1:g.36562A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1268A>G MANE Select ENSP00000416293.2:p.Gln423Arg
ENST00000674545.1:n.1885A>G
ENST00000674765.1:c.1030-758A>G ENSP00000501811.1:n.1030-758A>G
ENST00000675112.1:n.1569A>G
ENST00000676254.1:n.1717A>G
ENST00000426263.7:c.1268A>G ENSP00000416293.2:p.Gln423Arg
ENST00000475162.3:c.416-637A>G
ENST00000630287.2:c.*583A>G ENSP00000486694.1:n.*583A>G
NM_006516.2:c.1268A>G NP_006507.2:p.Gln423Arg
NM_006516.3:c.1268A>G NP_006507.2:p.Gln423Arg
NM_006516.4:c.1268A>G MANE Select NP_006507.2:p.Gln423Arg
Search 100 bp 5'
Search 100 bp 3'