Canonical Allele Identifier: CA339958288

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1042289
• ClinVar RCV Id: RCV001346218
• dbSNP Id: rs1643467923
• gnomAD v4: 1-42929770-C-G
• MyVariant Identifiers: chr1:g.43395441C>G (hg19) ; chr1:g.42929770C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929770C>G , CM000663.2:g.42929770C>G	GRCh38
NC_000001.10:g.43395441C>G , CM000663.1:g.43395441C>G	GRCh37
NC_000001.9:g.43168028C>G	NCBI36
NG_008232.1:g.34407G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.690G>C MANE Select	ENSP00000416293.2:p.Lys230Asn
ENST00000669445.1:c.57-37G>C
ENST00000674765.1:c.690G>C	ENSP00000501811.1:p.Lys230Asn
ENST00000675112.1:n.713G>C
ENST00000676254.1:n.1139G>C
ENST00000426263.7:c.690G>C	ENSP00000416293.2:p.Lys230Asn
ENST00000439722.2:c.569G>C	ENSP00000395521.2:n.569G>C
ENST00000475162.3:c.415+856G>C
ENST00000630287.2:c.*5G>C	ENSP00000486694.1:n.*5G>C
NM_006516.2:c.690G>C	NP_006507.2:p.Lys230Asn
NM_006516.3:c.690G>C	NP_006507.2:p.Lys230Asn
NM_006516.4:c.690G>C MANE Select	NP_006507.2:p.Lys230Asn