Canonical Allele Identifier: CA351756245

Gene: VHL

Linked Data

• ClinVar Variation Id: 428795
• ClinVar RCV Id: RCV000492520 ; RCV000767287 ; RCV000631291
• dbSNP Id: rs5030822
• gnomAD v4: 3-10149856-T-C
• COSMIC: COSM1651695
• MyVariant Identifiers: chr3:g.10191540T>C (hg19) ; chr3:g.10149856T>C (hg38)
• PCER: P-CER:CA351756245/193300
• CIViC: CA351756245
• PubMed: PMID:7987306 ; PMID:8707293 ; PMID:8956040 ; PMID:10567493 ; PMID:11058902 ; PMID:12114495 ; PMID:16314641 ; PMID:17024664 ; PMID:18836774 ; PMID:19009041

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149856T>C , CM000665.2:g.10149856T>C	GRCh38
NC_000003.11:g.10191540T>C , CM000665.1:g.10191540T>C	GRCh37
NC_000003.10:g.10166540T>C	NCBI36
NG_008212.3:g.13222T>C , LRG_322:g.13222T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*210T>C	ENSP00000512434.1:n.*210T>C
ENST00000696143.1:c.669T>C	ENSP00000512435.1:n.669T>C
ENST00000696153.1:c.644T>C	ENSP00000512444.1:p.Leu215Pro
ENST00000256474.3:c.533T>C MANE Select	ENSP00000256474.3:p.Leu178Pro
ENST00000256474.2:c.533T>C	ENSP00000256474.2:p.Leu178Pro
ENST00000345392.2:c.410T>C	ENSP00000344757.2:p.Leu137Pro
ENST00000477538.1:n.669T>C
NM_000551.3:c.533T>C , LRG_322t1:c.533T>C	NP_000542.1:p.Leu178Pro
NM_198156.2:c.410T>C	NP_937799.1:p.Leu137Pro
NM_001354723.1:c.*87T>C	NP_001341652.1:n.*87T>C
NM_000551.4:c.533T>C MANE Select	NP_000542.1:p.Leu178Pro
NM_001354723.2:c.*87T>C	NP_001341652.1:n.*87T>C
NM_198156.3:c.410T>C	NP_937799.1:p.Leu137Pro