Canonical Allele Identifier: CA357103

Gene: VHL

Linked Data

• ClinVar Variation Id: 223236
• ClinVar RCV Id: RCV000208844 ; RCV003765350
• dbSNP Id: rs869025668
• COSMIC: COSM479181
• MyVariant Identifiers: chr3:g.10191648G>T (hg19) ; chr3:g.10149964G>T (hg38)
• CIViC: CA357103
• PCER: P-CER:CA357103/193300

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149964G>T , CM000665.2:g.10149964G>T	GRCh38
NC_000003.11:g.10191648G>T , CM000665.1:g.10191648G>T	GRCh37
NC_000003.10:g.10166648G>T	NCBI36
NG_008212.3:g.13330G>T , LRG_322:g.13330G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*318G>T	ENSP00000512434.1:n.*318G>T
ENST00000696143.1:c.777G>T	ENSP00000512435.1:n.777G>T
ENST00000696153.1:c.752G>T	ENSP00000512444.1:p.Ter251Leu
ENST00000256474.3:c.641G>T MANE Select	ENSP00000256474.3:p.Ter214Leu
ENST00000256474.2:c.641G>T	ENSP00000256474.2:p.Ter214Leu
ENST00000345392.2:c.518G>T	ENSP00000344757.2:p.Ter173Leu
ENST00000477538.1:n.777G>T
NM_000551.3:c.641G>T , LRG_322t1:c.641G>T	NP_000542.1:p.Ter214Leu
NM_198156.2:c.518G>T	NP_937799.1:p.Ter173Leu
NM_001354723.1:c.*195G>T	NP_001341652.1:n.*195G>T
NM_000551.4:c.641G>T MANE Select	NP_000542.1:p.Ter214Leu
NM_001354723.2:c.*195G>T	NP_001341652.1:n.*195G>T
NM_198156.3:c.518G>T	NP_937799.1:p.Ter173Leu