Canonical Allele Identifier: CA1139655779

Gene: VHL

Linked Data

• ClinVar Variation Id: 899553
• ClinVar RCV Id: RCV001144187
• dbSNP Id: rs1696413219

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10151654A>G , CM000665.2:g.10151654A>G	GRCh38
NC_000003.11:g.10193338A>G , CM000665.1:g.10193338A>G	GRCh37
NC_000003.10:g.10168338A>G	NCBI36
NG_008212.3:g.15020A>G , LRG_322:g.15020A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*2008A>G	ENSP00000512434.1:n.*2008A>G
ENST00000696143.1:c.2467A>G	ENSP00000512435.1:n.2467A>G
ENST00000696153.1:c.*1689A>G	ENSP00000512444.1:n.*1689A>G
ENST00000256474.3:c.*1689A>G MANE Select	ENSP00000256474.3:n.*1689A>G
ENST00000256474.2:c.*1689A>G	ENSP00000256474.2:n.*1689A>G
ENST00000345392.2:c.*1689A>G	ENSP00000344757.2:n.*1689A>G
NM_000551.3:c.*1689A>G , LRG_322t1:c.*1689A>G	NP_000542.1:n.*1689A>G
NM_198156.2:c.*1689A>G	NP_937799.1:n.*1689A>G
NM_001354723.1:c.*1885A>G	NP_001341652.1:n.*1885A>G
NM_000551.4:c.*1689A>G MANE Select	NP_000542.1:n.*1689A>G
NM_001354723.2:c.*1885A>G	NP_001341652.1:n.*1885A>G
NM_198156.3:c.*1689A>G	NP_937799.1:n.*1689A>G