Canonical Allele Identifier: CA339956790
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 580258
ClinVar RCV Id: RCV000703738 RCV001771998 RCV003446364 RCV003446360 RCV003446362 RCV003446361 RCV003446363
dbSNP Id: rs1425773776
gnomAD v2: 1-43394951-G-C
gnomAD v4: 1-42929280-G-C
MyVariant Identifiers: chr1:g.43394951G>C (hg19) chr1:g.42929280G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929280G>C , CM000663.2:g.42929280G>C GRCh38
NC_000001.10:g.43394951G>C , CM000663.1:g.43394951G>C GRCh37
NC_000001.9:g.43167538G>C NCBI36
NG_008232.1:g.34897C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.902C>G MANE Select ENSP00000416293.2:p.Ala301Gly
ENST00000674545.1:n.220C>G
ENST00000674765.1:c.902C>G ENSP00000501811.1:p.Ala301Gly
ENST00000675112.1:n.1203C>G
ENST00000676254.1:n.1351C>G
ENST00000426263.7:c.902C>G ENSP00000416293.2:p.Ala301Gly
ENST00000439722.2:c.781C>G ENSP00000395521.2:n.781C>G
ENST00000475162.3:c.415+1346C>G
ENST00000630287.2:c.*217C>G ENSP00000486694.1:n.*217C>G
NM_006516.2:c.902C>G NP_006507.2:p.Ala301Gly
NM_006516.3:c.902C>G NP_006507.2:p.Ala301Gly
NM_006516.4:c.902C>G MANE Select NP_006507.2:p.Ala301Gly
Search 100 bp 5'
Search 100 bp 3'