Canonical Allele Identifier: CA803448

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 378609
• ClinVar RCV Id: RCV001718875 ; RCV002374635 ; RCV003445946 ; RCV003445947 ; RCV003445948 ; RCV003445949 ; RCV003445950
• dbSNP Id: rs150384629
• ExAC: 1:43395267 G / A
• gnomAD v2: 1-43395267-G-A
• gnomAD v3: 1-42929596-G-A
• gnomAD v4: 1-42929596-G-A
• MyVariant Identifiers: chr1:g.43395267G>A (hg19) ; chr1:g.42929596G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929596G>A , CM000663.2:g.42929596G>A	GRCh38
NC_000001.10:g.43395267G>A , CM000663.1:g.43395267G>A	GRCh37
NC_000001.9:g.43167854G>A	NCBI36
NG_008232.1:g.34581C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.864C>T MANE Select	ENSP00000416293.2:p.Asn288=
ENST00000674765.1:c.864C>T	ENSP00000501811.1:p.Asn288=
ENST00000675112.1:n.887C>T
ENST00000676254.1:n.1313C>T
ENST00000426263.7:c.864C>T	ENSP00000416293.2:p.Asn288=
ENST00000439722.2:c.743C>T	ENSP00000395521.2:n.743C>T
ENST00000475162.3:c.415+1030C>T
ENST00000630287.2:c.*179C>T	ENSP00000486694.1:n.*179C>T
NM_006516.2:c.864C>T	NP_006507.2:p.Asn288=
NM_006516.3:c.864C>T	NP_006507.2:p.Asn288=
NM_006516.4:c.864C>T MANE Select	NP_006507.2:p.Asn288=