Canonical Allele Identifier: CA351756444

Gene: VHL

Linked Data

• ClinVar Variation Id: 526677
• ClinVar RCV Id: RCV000631274 ; RCV000679044 ; RCV000767296 ; RCV002343200
• dbSNP Id: rs902694906
• COSMIC: COSM14353
• MyVariant Identifiers: chr3:g.10191582C>T (hg19) ; chr3:g.10149898C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149898C>T , CM000665.2:g.10149898C>T	GRCh38
NC_000003.11:g.10191582C>T , CM000665.1:g.10191582C>T	GRCh37
NC_000003.10:g.10166582C>T	NCBI36
NG_008212.3:g.13264C>T , LRG_322:g.13264C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*252C>T	ENSP00000512434.1:n.*252C>T
ENST00000696143.1:c.711C>T	ENSP00000512435.1:n.711C>T
ENST00000696153.1:c.686C>T	ENSP00000512444.1:p.Pro229Leu
ENST00000256474.3:c.575C>T MANE Select	ENSP00000256474.3:p.Pro192Leu
ENST00000256474.2:c.575C>T	ENSP00000256474.2:p.Pro192Leu
ENST00000345392.2:c.452C>T	ENSP00000344757.2:p.Pro151Leu
ENST00000477538.1:n.711C>T
NM_000551.3:c.575C>T , LRG_322t1:c.575C>T	NP_000542.1:p.Pro192Leu
NM_198156.2:c.452C>T	NP_937799.1:p.Pro151Leu
NM_001354723.1:c.*129C>T	NP_001341652.1:n.*129C>T
NM_000551.4:c.575C>T MANE Select	NP_000542.1:p.Pro192Leu
NM_001354723.2:c.*129C>T	NP_001341652.1:n.*129C>T
NM_198156.3:c.452C>T	NP_937799.1:p.Pro151Leu