Canonical Allele Identifier: CA339953875

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1302703
• ClinVar RCV Id: RCV001762770
• dbSNP Id: rs2124446373
• MyVariant Identifiers: chr1:g.43393363C>G (hg19) ; chr1:g.42927692C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927692C>G , CM000663.2:g.42927692C>G	GRCh38
NC_000001.10:g.43393363C>G , CM000663.1:g.43393363C>G	GRCh37
NC_000001.9:g.43165950C>G	NCBI36
NG_008232.1:g.36485G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1191G>C MANE Select	ENSP00000416293.2:p.Gln397His
ENST00000674545.1:n.1808G>C
ENST00000674765.1:c.1030-835G>C	ENSP00000501811.1:n.1030-835G>C
ENST00000675112.1:n.1492G>C
ENST00000676254.1:n.1640G>C
ENST00000426263.7:c.1191G>C	ENSP00000416293.2:p.Gln397His
ENST00000475162.3:c.416-714G>C
ENST00000630287.2:c.*506G>C	ENSP00000486694.1:n.*506G>C
NM_006516.2:c.1191G>C	NP_006507.2:p.Gln397His
NM_006516.3:c.1191G>C	NP_006507.2:p.Gln397His
NM_006516.4:c.1191G>C MANE Select	NP_006507.2:p.Gln397His