Canonical Allele Identifier: CA339954174

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 3061552
• ClinVar RCV Id: RCV004548998
• gnomAD v4: 1-42927760-A-T
• MyVariant Identifiers: chr1:g.43393431A>T (hg19) ; chr1:g.42927760A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927760A>T , CM000663.2:g.42927760A>T	GRCh38
NC_000001.10:g.43393431A>T , CM000663.1:g.43393431A>T	GRCh37
NC_000001.9:g.43166018A>T	NCBI36
NG_008232.1:g.36417T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1123T>A MANE Select	ENSP00000416293.2:p.Phe375Ile
ENST00000674545.1:n.1740T>A
ENST00000674765.1:c.1030-903T>A	ENSP00000501811.1:n.1030-903T>A
ENST00000675112.1:n.1424T>A
ENST00000676254.1:n.1572T>A
ENST00000426263.7:c.1123T>A	ENSP00000416293.2:p.Phe375Ile
ENST00000475162.3:c.416-782T>A
ENST00000630287.2:c.*438T>A	ENSP00000486694.1:n.*438T>A
NM_006516.2:c.1123T>A	NP_006507.2:p.Phe375Ile
NM_006516.3:c.1123T>A	NP_006507.2:p.Phe375Ile
NM_006516.4:c.1123T>A MANE Select	NP_006507.2:p.Phe375Ile