Canonical Allele Identifier: CA10520809

Gene: GPC3

Linked Data

• ClinVar Variation Id: 2047755
• ClinVar RCV Id: RCV002918281
• dbSNP Id: rs767701856
• ExAC: X:132887867 A / C
• gnomAD v2: X-132887867-A-C
• gnomAD v4: X-133753840-A-C
• MyVariant Identifiers: chrX:g.132887867A>C (hg19) ; chrX:g.133753840A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133753840A>C , CM000685.2:g.133753840A>C	GRCh38
NC_000023.10:g.132887867A>C , CM000685.1:g.132887867A>C	GRCh37
NC_000023.9:g.132715533A>C	NCBI36
NG_009286.1:g.236800T>G , LRG_505:g.236800T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684880.1:c.*262T>G	ENSP00000510280.1:n.*262T>G
ENST00000689310.1:c.626T>G	ENSP00000510438.1:p.Val209Gly
ENST00000370818.8:c.674T>G MANE Select	ENSP00000359854.3:p.Val225Gly
ENST00000394299.7:c.674T>G	ENSP00000377836.2:p.Val225Gly
ENST00000370818.7:c.674T>G	ENSP00000359854.3:p.Val225Gly
ENST00000394299.6:c.674T>G	ENSP00000377836.2:p.Val225Gly
ENST00000631057.2:c.512T>G	ENSP00000486325.1:p.Val171Gly
NM_001164617.1:c.674T>G	NP_001158089.1:p.Val225Gly
NM_001164618.1:c.626T>G	NP_001158090.1:p.Val209Gly
NM_001164619.1:c.512T>G	NP_001158091.1:p.Val171Gly
NM_004484.3:c.674T>G , LRG_505t1:c.674T>G	NP_004475.1:p.Val225Gly
XM_017029413.2:c.674T>G	XP_016884902.1:p.Val225Gly
NM_001164617.2:c.674T>G	NP_001158089.1:p.Val225Gly
NM_001164618.2:c.626T>G	NP_001158090.1:p.Val209Gly
NM_001164619.2:c.512T>G	NP_001158091.1:p.Val171Gly
NM_004484.4:c.674T>G MANE Select	NP_004475.1:p.Val225Gly