Canonical Allele Identifier: CA318461

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 207208
• ClinVar RCV Id: RCV000189374 ; RCV003445652 ; RCV003445654 ; RCV003445655 ; RCV003114343 ; RCV003445656 ; RCV003445653
• dbSNP Id: rs796053259
• gnomAD v2: 1-43393445-A-G
• gnomAD v4: 1-42927774-A-G
• MyVariant Identifiers: chr1:g.43393445A>G (hg19) ; chr1:g.42927774A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927774A>G , CM000663.2:g.42927774A>G	GRCh38
NC_000001.10:g.43393445A>G , CM000663.1:g.43393445A>G	GRCh37
NC_000001.9:g.43166032A>G	NCBI36
NG_008232.1:g.36403T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1109T>C MANE Select	ENSP00000416293.2:p.Val370Ala
ENST00000674545.1:n.1726T>C
ENST00000674765.1:c.1030-917T>C	ENSP00000501811.1:n.1030-917T>C
ENST00000675112.1:n.1410T>C
ENST00000676254.1:n.1558T>C
ENST00000426263.7:c.1109T>C	ENSP00000416293.2:p.Val370Ala
ENST00000475162.3:c.416-796T>C
ENST00000630287.2:c.*424T>C	ENSP00000486694.1:n.*424T>C
NM_006516.2:c.1109T>C	NP_006507.2:p.Val370Ala
NM_006516.3:c.1109T>C	NP_006507.2:p.Val370Ala
NM_006516.4:c.1109T>C MANE Select	NP_006507.2:p.Val370Ala