Canonical Allele Identifier: CA414702330

Gene: GPC3

Linked Data

• ClinVar Variation Id: 954675
• ClinVar RCV Id: RCV001227180
• dbSNP Id: rs1449654880
• gnomAD v2: X-132670156-T-C
• gnomAD v4: X-133536128-T-C
• MyVariant Identifiers: chrX:g.132670156T>C (hg19) ; chrX:g.133536128T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133536128T>C , CM000685.2:g.133536128T>C	GRCh38
NC_000023.10:g.132670156T>C , CM000685.1:g.132670156T>C	GRCh37
NC_000023.9:g.132497822T>C	NCBI36
NG_009286.1:g.454511A>G , LRG_505:g.454511A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406757.3:c.928A>G
ENST00000689310.1:c.1691A>G	ENSP00000510438.1:p.His564Arg
ENST00000692084.1:c.1026A>G
ENST00000370818.8:c.1739A>G MANE Select	ENSP00000359854.3:p.His580Arg
ENST00000394299.7:c.1808A>G	ENSP00000377836.2:p.His603Arg
ENST00000669691.1:n.805A>G
ENST00000370818.7:c.1739A>G	ENSP00000359854.3:p.His580Arg
ENST00000394299.6:c.1808A>G	ENSP00000377836.2:p.His603Arg
ENST00000631057.2:c.1577A>G	ENSP00000486325.1:p.His526Arg
NM_001164617.1:c.1808A>G	NP_001158089.1:p.His603Arg
NM_001164618.1:c.1691A>G	NP_001158090.1:p.His564Arg
NM_001164619.1:c.1577A>G	NP_001158091.1:p.His526Arg
NM_004484.3:c.1739A>G , LRG_505t1:c.1739A>G	NP_004475.1:p.His580Arg
NM_001164617.2:c.1808A>G	NP_001158089.1:p.His603Arg
NM_001164618.2:c.1691A>G	NP_001158090.1:p.His564Arg
NM_001164619.2:c.1577A>G	NP_001158091.1:p.His526Arg
NM_004484.4:c.1739A>G MANE Select	NP_004475.1:p.His580Arg