Canonical Allele Identifier: CA735970003

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1344880106
• gnomAD v3: 1-42929332-C-G
• gnomAD v4: 1-42929332-C-G
• MyVariant Identifiers: chr1:g.43395003C>G (hg19) ; chr1:g.42929332C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929332C>G , CM000663.2:g.42929332C>G	GRCh38
NC_000001.10:g.43395003C>G , CM000663.1:g.43395003C>G	GRCh37
NC_000001.9:g.43167590C>G	NCBI36
NG_008232.1:g.34845G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.868-18G>C MANE Select	ENSP00000416293.2:n.868-18G>C
ENST00000674545.1:n.168G>C
ENST00000674765.1:c.868-18G>C	ENSP00000501811.1:n.868-18G>C
ENST00000675112.1:n.1151G>C
ENST00000676254.1:n.1317-18G>C
ENST00000426263.7:c.868-18G>C	ENSP00000416293.2:n.868-18G>C
ENST00000439722.2:c.747-18G>C	ENSP00000395521.2:n.747-18G>C
ENST00000475162.3:c.415+1294G>C
ENST00000630287.2:c.*183-18G>C	ENSP00000486694.1:n.*183-18G>C
NM_006516.2:c.868-18G>C	NP_006507.2:n.868-18G>C
NM_006516.3:c.868-18G>C	NP_006507.2:n.868-18G>C
NM_006516.4:c.868-18G>C MANE Select	NP_006507.2:n.868-18G>C