Canonical Allele Identifier: CA21251479

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2194343
• ClinVar RCV Id: RCV002612481
• dbSNP Id: rs763933990
• gnomAD v4: 1-42929970-G-A
• MyVariant Identifiers: chr1:g.43395641G>A (hg19) ; chr1:g.42929970G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929970G>A , CM000663.2:g.42929970G>A	GRCh38
NC_000001.10:g.43395641G>A , CM000663.1:g.43395641G>A	GRCh37
NC_000001.9:g.43168228G>A	NCBI36
NG_008232.1:g.34207C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.582C>T MANE Select	ENSP00000416293.2:p.Phe194=
ENST00000674765.1:c.582C>T	ENSP00000501811.1:p.Phe194=
ENST00000675112.1:n.605C>T
ENST00000676254.1:n.1031C>T
ENST00000426263.7:c.582C>T	ENSP00000416293.2:p.Phe194=
ENST00000439722.2:c.461C>T	ENSP00000395521.2:n.461C>T
ENST00000475162.3:c.415+656C>T
ENST00000630287.2:c.517-190C>T	ENSP00000486694.1:n.517-190C>T
NM_006516.2:c.582C>T	NP_006507.2:p.Phe194=
NM_006516.3:c.582C>T	NP_006507.2:p.Phe194=
NM_006516.4:c.582C>T MANE Select	NP_006507.2:p.Phe194=