Canonical Allele Identifier: CA10611057

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 297367
• ClinVar RCV Id: RCV000348582 ; RCV000398717
• dbSNP Id: rs886046337
• gnomAD v2: 1-43392061-C-A
• gnomAD v3: 1-42926390-C-A
• gnomAD v4: 1-42926390-C-A
• MyVariant Identifiers: chr1:g.43392061C>A (hg19) ; chr1:g.42926390C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42926390C>A , CM000663.2:g.42926390C>A	GRCh38
NC_000001.10:g.43392061C>A , CM000663.1:g.43392061C>A	GRCh37
NC_000001.9:g.43164648C>A	NCBI36
NG_008232.1:g.37787G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.*651G>T MANE Select	ENSP00000416293.2:n.*651G>T
ENST00000674545.1:n.2747G>T
ENST00000674765.1:c.*417G>T	ENSP00000501811.1:n.*417G>T
ENST00000675112.1:n.2431G>T
ENST00000676254.1:n.2579G>T
ENST00000426263.7:c.*651G>T	ENSP00000416293.2:n.*651G>T
ENST00000630287.2:c.*1445G>T	ENSP00000486694.1:n.*1445G>T
NM_006516.2:c.*651G>T	NP_006507.2:n.*651G>T
NM_006516.3:c.*651G>T	NP_006507.2:n.*651G>T
NM_006516.4:c.*651G>T MANE Select	NP_006507.2:n.*651G>T