Canonical Allele Identifier: CA351756117

Gene: VHL

Linked Data

• ClinVar Variation Id: 496067
• ClinVar RCV Id: RCV000587033 ; RCV001060967
• dbSNP Id: rs1553620313
• COSMIC: COSM18073
• MyVariant Identifiers: chr3:g.10191491T>C (hg19) ; chr3:g.10149807T>C (hg38)
• PCER: P-CER:CA351756117/193300
• CIViC: CA351756117
• PubMed: PMID:7728151 ; PMID:8641976 ; PMID:8956040 ; PMID:10761708 ; PMID:11536052 ; PMID:19270817 ; PMID:24446253

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149807T>C , CM000665.2:g.10149807T>C	GRCh38
NC_000003.11:g.10191491T>C , CM000665.1:g.10191491T>C	GRCh37
NC_000003.10:g.10166491T>C	NCBI36
NG_008212.3:g.13173T>C , LRG_322:g.13173T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*161T>C	ENSP00000512434.1:n.*161T>C
ENST00000696143.1:c.620T>C	ENSP00000512435.1:n.620T>C
ENST00000696153.1:c.595T>C	ENSP00000512444.1:p.Cys199Arg
ENST00000256474.3:c.484T>C MANE Select	ENSP00000256474.3:p.Cys162Arg
ENST00000256474.2:c.484T>C	ENSP00000256474.2:p.Cys162Arg
ENST00000345392.2:c.361T>C	ENSP00000344757.2:p.Cys121Arg
ENST00000477538.1:n.620T>C
NM_000551.3:c.484T>C , LRG_322t1:c.484T>C	NP_000542.1:p.Cys162Arg
NM_198156.2:c.361T>C	NP_937799.1:p.Cys121Arg
NM_001354723.1:c.*38T>C	NP_001341652.1:n.*38T>C
NM_000551.4:c.484T>C MANE Select	NP_000542.1:p.Cys162Arg
NM_001354723.2:c.*38T>C	NP_001341652.1:n.*38T>C
NM_198156.3:c.361T>C	NP_937799.1:p.Cys121Arg