Canonical Allele Identifier: CA70049399

Gene: VHL

Linked Data

• ClinVar Variation Id: 428807
• ClinVar RCV Id: RCV000492175 ; RCV000801496 ; RCV001702663
• dbSNP Id: rs5030830
• COSMIC: COSM14312
• MyVariant Identifiers: chr3:g.10188210T>C (hg19) ; chr3:g.10146526T>C (hg38)
• PCER: P-CER:CA70049399/193300
• CIViC: CA70049399
• PubMed: PMID:7987306 ; PMID:8956040 ; PMID:15300849 ; PMID:17024664 ; PMID:18836774 ; PMID:22799452

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146526T>C , CM000665.2:g.10146526T>C	GRCh38
NC_000003.11:g.10188210T>C , CM000665.1:g.10188210T>C	GRCh37
NC_000003.10:g.10163210T>C	NCBI36
NG_008212.3:g.9892T>C , LRG_322:g.9892T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*30T>C	ENSP00000512434.1:n.*30T>C
ENST00000696143.1:c.600-3261T>C	ENSP00000512435.1:n.600-3261T>C
ENST00000696153.1:c.353T>C	ENSP00000512444.1:p.Leu118Pro
ENST00000256474.3:c.353T>C MANE Select	ENSP00000256474.3:p.Leu118Pro
ENST00000256474.2:c.353T>C	ENSP00000256474.2:p.Leu118Pro
ENST00000345392.2:c.341-3261T>C	ENSP00000344757.2:n.341-3261T>C
ENST00000477538.1:n.489T>C
NM_000551.3:c.353T>C , LRG_322t1:c.353T>C	NP_000542.1:p.Leu118Pro
NM_198156.2:c.341-3261T>C	NP_937799.1:n.341-3261T>C
XM_011534078.1:c.*30T>C	XP_011532380.1:n.*30T>C
NM_001354723.1:c.*18-3261T>C	NP_001341652.1:n.*18-3261T>C
NM_000551.4:c.353T>C MANE Select	NP_000542.1:p.Leu118Pro
NM_001354723.2:c.*18-3261T>C	NP_001341652.1:n.*18-3261T>C
NM_198156.3:c.341-3261T>C	NP_937799.1:n.341-3261T>C