Canonical Allele Identifier: CA020442

Gene: VHL

Linked Data

• ClinVar Variation Id: 43605
• ClinVar RCV Id: RCV000036549 ; RCV001023359 ; RCV001701727
• dbSNP Id: rs397516445
• MyVariant Identifiers: chr3:g.10191504T>C (hg19) ; chr3:g.10149820T>C (hg38)
• PubMed: PMID:8730290 ; PMID:10408776 ; PMID:17661816
• CIViC: CA020442

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149820T>C , CM000665.2:g.10149820T>C	GRCh38
NC_000003.11:g.10191504T>C , CM000665.1:g.10191504T>C	GRCh37
NC_000003.10:g.10166504T>C	NCBI36
NG_008212.3:g.13186T>C , LRG_322:g.13186T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*174T>C	ENSP00000512434.1:n.*174T>C
ENST00000696143.1:c.633T>C	ENSP00000512435.1:n.633T>C
ENST00000696153.1:c.608T>C	ENSP00000512444.1:p.Val203Ala
ENST00000256474.3:c.497T>C MANE Select	ENSP00000256474.3:p.Val166Ala
ENST00000256474.2:c.497T>C	ENSP00000256474.2:p.Val166Ala
ENST00000345392.2:c.374T>C	ENSP00000344757.2:p.Val125Ala
ENST00000477538.1:n.633T>C
NM_000551.3:c.497T>C , LRG_322t1:c.497T>C	NP_000542.1:p.Val166Ala
NM_198156.2:c.374T>C	NP_937799.1:p.Val125Ala
NM_001354723.1:c.*51T>C	NP_001341652.1:n.*51T>C
NM_000551.4:c.497T>C MANE Select	NP_000542.1:p.Val166Ala
NM_001354723.2:c.*51T>C	NP_001341652.1:n.*51T>C
NM_198156.3:c.374T>C	NP_937799.1:p.Val125Ala