Canonical Allele Identifier: CA803560
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 297381
ClinVar RCV Id: RCV000311944 RCV000350448 RCV000480070 RCV000662334 RCV000864633 RCV001711886 RCV002321974 RCV003445892 RCV003445893 RCV003949994
dbSNP Id: rs76672402
ExAC: 1:43396501 G / C
gnomAD v2: 1-43396501-G-C
gnomAD v3: 1-42930830-G-C
gnomAD v4: 1-42930830-G-C
MyVariant Identifiers: chr1:g.43396501G>C (hg19) chr1:g.42930830G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930830G>C , CM000663.2:g.42930830G>C GRCh38
NC_000001.10:g.43396501G>C , CM000663.1:g.43396501G>C GRCh37
NC_000001.9:g.43169088G>C NCBI36
NG_008232.1:g.33347C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.312C>G MANE Select ENSP00000416293.2:p.Phe104Leu
ENST00000674765.1:c.312C>G ENSP00000501811.1:p.Phe104Leu
ENST00000675112.1:n.335C>G
ENST00000676254.1:n.761C>G
ENST00000372500.4:c.216C>G ENSP00000361578.4:p.Phe72Leu
ENST00000426263.7:c.312C>G ENSP00000416293.2:p.Phe104Leu
ENST00000439722.2:c.191C>G ENSP00000395521.2:n.191C>G
ENST00000475162.3:c.211C>G
ENST00000625233.2:n.520C>G
ENST00000630287.2:c.312C>G ENSP00000486694.1:p.Phe104Leu
NM_006516.2:c.312C>G NP_006507.2:p.Phe104Leu
NM_006516.3:c.312C>G NP_006507.2:p.Phe104Leu
NM_006516.4:c.312C>G MANE Select NP_006507.2:p.Phe104Leu
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