Canonical Allele Identifier: CA735971178

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1417290688
• gnomAD v3: 1-42930103-G-C
• gnomAD v4: 1-42930103-G-C
• MyVariant Identifiers: chr1:g.43395774G>C (hg19) ; chr1:g.42930103G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930103G>C , CM000663.2:g.42930103G>C	GRCh38
NC_000001.10:g.43395774G>C , CM000663.1:g.43395774G>C	GRCh37
NC_000001.9:g.43168361G>C	NCBI36
NG_008232.1:g.34074C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.517-68C>G MANE Select	ENSP00000416293.2:n.517-68C>G
ENST00000674765.1:c.517-68C>G	ENSP00000501811.1:n.517-68C>G
ENST00000675112.1:n.540-68C>G
ENST00000676254.1:n.966-68C>G
ENST00000426263.7:c.517-68C>G	ENSP00000416293.2:n.517-68C>G
ENST00000439722.2:c.396-68C>G	ENSP00000395521.2:n.396-68C>G
ENST00000475162.3:c.415+523C>G
ENST00000630287.2:c.517-323C>G	ENSP00000486694.1:n.517-323C>G
NM_006516.2:c.517-68C>G	NP_006507.2:n.517-68C>G
NM_006516.3:c.517-68C>G	NP_006507.2:n.517-68C>G
NM_006516.4:c.517-68C>G MANE Select	NP_006507.2:n.517-68C>G