Canonical Allele Identifier: CA10614841

Gene: VHL

Linked Data

• ClinVar Variation Id: 342450
• ClinVar RCV Id: RCV000361788
• dbSNP Id: rs886057727
• MyVariant Identifiers: chr3:g.10193457A>G (hg19) ; chr3:g.10151773A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10151773A>G , CM000665.2:g.10151773A>G	GRCh38
NC_000003.11:g.10193457A>G , CM000665.1:g.10193457A>G	GRCh37
NC_000003.10:g.10168457A>G	NCBI36
NG_008212.3:g.15139A>G , LRG_322:g.15139A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*2127A>G	ENSP00000512434.1:n.*2127A>G
ENST00000696143.1:c.2586A>G	ENSP00000512435.1:n.2586A>G
ENST00000696153.1:c.*1808A>G	ENSP00000512444.1:n.*1808A>G
ENST00000256474.3:c.*1808A>G MANE Select	ENSP00000256474.3:n.*1808A>G
ENST00000256474.2:c.*1808A>G	ENSP00000256474.2:n.*1808A>G
ENST00000345392.2:c.*1808A>G	ENSP00000344757.2:n.*1808A>G
NM_000551.3:c.*1808A>G , LRG_322t1:c.*1808A>G	NP_000542.1:n.*1808A>G
NM_198156.2:c.*1808A>G	NP_937799.1:n.*1808A>G
NM_001354723.1:c.*2004A>G	NP_001341652.1:n.*2004A>G
NM_000551.4:c.*1808A>G MANE Select	NP_000542.1:n.*1808A>G
NM_001354723.2:c.*2004A>G	NP_001341652.1:n.*2004A>G
NM_198156.3:c.*1808A>G	NP_937799.1:n.*1808A>G