Canonical Allele Identifier: CA803265

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 297375
• ClinVar RCV Id: RCV000294471 ; RCV000351680
• dbSNP Id: rs190760291
• ExAC: 1:43392366 C / T
• gnomAD v2: 1-43392366-C-T
• gnomAD v3: 1-42926695-C-T
• gnomAD v4: 1-42926695-C-T
• MyVariant Identifiers: chr1:g.43392366C>T (hg19) ; chr1:g.42926695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42926695C>T , CM000663.2:g.42926695C>T	GRCh38
NC_000001.10:g.43392366C>T , CM000663.1:g.43392366C>T	GRCh37
NC_000001.9:g.43164953C>T	NCBI36
NG_008232.1:g.37482G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.*346G>A MANE Select	ENSP00000416293.2:n.*346G>A
ENST00000674545.1:n.2442G>A
ENST00000674765.1:c.*112G>A	ENSP00000501811.1:n.*112G>A
ENST00000675112.1:n.2126G>A
ENST00000676254.1:n.2274G>A
ENST00000426263.7:c.*346G>A	ENSP00000416293.2:n.*346G>A
ENST00000630287.2:c.*1140G>A	ENSP00000486694.1:n.*1140G>A
NM_006516.2:c.*346G>A	NP_006507.2:n.*346G>A
NM_006516.3:c.*346G>A	NP_006507.2:n.*346G>A
NM_006516.4:c.*346G>A MANE Select	NP_006507.2:n.*346G>A