Canonical Allele Identifier: CA432423739

Gene: VHL

Linked Data

• ClinVar Variation Id: 792771
• ClinVar RCV Id: RCV001398483 ; RCV002354867
• dbSNP Id: rs1372952726
• gnomAD v2: 3-10191583-A-C
• gnomAD v4: 3-10149899-A-C
• MyVariant Identifiers: chr3:g.10191583A>C (hg19) ; chr3:g.10149899A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149899A>C , CM000665.2:g.10149899A>C	GRCh38
NC_000003.11:g.10191583A>C , CM000665.1:g.10191583A>C	GRCh37
NC_000003.10:g.10166583A>C	NCBI36
NG_008212.3:g.13265A>C , LRG_322:g.13265A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*253A>C	ENSP00000512434.1:n.*253A>C
ENST00000696143.1:c.712A>C	ENSP00000512435.1:n.712A>C
ENST00000696153.1:c.687A>C	ENSP00000512444.1:p.Pro229=
ENST00000256474.3:c.576A>C MANE Select	ENSP00000256474.3:p.Pro192=
ENST00000256474.2:c.576A>C	ENSP00000256474.2:p.Pro192=
ENST00000345392.2:c.453A>C	ENSP00000344757.2:p.Pro151=
ENST00000477538.1:n.712A>C
NM_000551.3:c.576A>C , LRG_322t1:c.576A>C	NP_000542.1:p.Pro192=
NM_198156.2:c.453A>C	NP_937799.1:p.Pro151=
NM_001354723.1:c.*130A>C	NP_001341652.1:n.*130A>C
NM_000551.4:c.576A>C MANE Select	NP_000542.1:p.Pro192=
NM_001354723.2:c.*130A>C	NP_001341652.1:n.*130A>C
NM_198156.3:c.453A>C	NP_937799.1:p.Pro151=