Canonical Allele Identifier: CA318478

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 207217
• ClinVar RCV Id: RCV000189383 ; RCV001054891 ; RCV003445677 ; RCV003445673 ; RCV003445674 ; RCV003445675 ; RCV003445676
• dbSNP Id: rs572648977
• ExAC: 1:43392783 C / A
• gnomAD v2: 1-43392783-C-A
• gnomAD v3: 1-42927112-C-A
• gnomAD v4: 1-42927112-C-A
• MyVariant Identifiers: chr1:g.43392783C>A (hg19) ; chr1:g.42927112C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927112C>A , CM000663.2:g.42927112C>A	GRCh38
NC_000001.10:g.43392783C>A , CM000663.1:g.43392783C>A	GRCh37
NC_000001.9:g.43165370C>A	NCBI36
NG_008232.1:g.37065G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1408G>T MANE Select	ENSP00000416293.2:p.Gly470Trp
ENST00000674545.1:n.2025G>T
ENST00000674765.1:c.1030-255G>T	ENSP00000501811.1:n.1030-255G>T
ENST00000675112.1:n.1709G>T
ENST00000676254.1:n.1857G>T
ENST00000426263.7:c.1408G>T	ENSP00000416293.2:p.Gly470Trp
ENST00000475162.3:c.416-134G>T
ENST00000630287.2:c.*723G>T	ENSP00000486694.1:n.*723G>T
NM_006516.2:c.1408G>T	NP_006507.2:p.Gly470Trp
NM_006516.3:c.1408G>T	NP_006507.2:p.Gly470Trp
NM_006516.4:c.1408G>T MANE Select	NP_006507.2:p.Gly470Trp