Canonical Allele Identifier: CA339957541

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 665484
• ClinVar RCV Id: RCV000823780 ; RCV001332779 ; RCV003446465 ; RCV003446463 ; RCV003446466 ; RCV003446464
• dbSNP Id: rs1411827478
• gnomAD v2: 1-43395325-C-T
• gnomAD v4: 1-42929654-C-T
• MyVariant Identifiers: chr1:g.43395325C>T (hg19) ; chr1:g.42929654C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929654C>T , CM000663.2:g.42929654C>T	GRCh38
NC_000001.10:g.43395325C>T , CM000663.1:g.43395325C>T	GRCh37
NC_000001.9:g.43167912C>T	NCBI36
NG_008232.1:g.34523G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.806G>A MANE Select	ENSP00000416293.2:p.Arg269His
ENST00000669445.1:c.136G>A
ENST00000674765.1:c.806G>A	ENSP00000501811.1:p.Arg269His
ENST00000675112.1:n.829G>A
ENST00000676254.1:n.1255G>A
ENST00000426263.7:c.806G>A	ENSP00000416293.2:p.Arg269His
ENST00000439722.2:c.685G>A	ENSP00000395521.2:n.685G>A
ENST00000475162.3:c.415+972G>A
ENST00000630287.2:c.*121G>A	ENSP00000486694.1:n.*121G>A
NM_006516.2:c.806G>A	NP_006507.2:p.Arg269His
NM_006516.3:c.806G>A	NP_006507.2:p.Arg269His
NM_006516.4:c.806G>A MANE Select	NP_006507.2:p.Arg269His