Canonical Allele Identifier: CA020331

Gene: VHL

Linked Data

• ClinVar Variation Id: 135406
• ClinVar RCV Id: RCV000122260 ; RCV000409700 ; RCV000492595 ; RCV000467198 ; RCV000657025 ; RCV002483231
• dbSNP Id: rs578091032
• ExAC: 3:10183534 G / A
• gnomAD v2: 3-10183534-G-A
• gnomAD v3: 3-10141850-G-A
• gnomAD v4: 3-10141850-G-A
• COSMIC: COSM14367
• MyVariant Identifiers: chr3:g.10183534G>A (hg19) ; chr3:g.10141850G>A (hg38)
• CIViC: CA020331
• PubMed: PMID:9413424 ; PMID:9671762 ; PMID:9751722 ; PMID:11505222 ; PMID:23541568 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141850G>A , CM000665.2:g.10141850G>A	GRCh38
NC_000003.11:g.10183534G>A , CM000665.1:g.10183534G>A	GRCh37
NC_000003.10:g.10158534G>A	NCBI36
NG_008212.3:g.5216G>A , LRG_322:g.5216G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.3G>A	ENSP00000512434.1:p.Met1Ile
ENST00000696143.1:c.3G>A	ENSP00000512435.1:p.Met1Ile
ENST00000696153.1:c.3G>A	ENSP00000512444.1:p.Met1Ile
ENST00000256474.3:c.3G>A MANE Select	ENSP00000256474.3:p.Met1Ile
ENST00000256474.2:c.3G>A	ENSP00000256474.2:p.Met1Ile
ENST00000345392.2:c.3G>A	ENSP00000344757.2:p.Met1Ile
NM_000551.3:c.3G>A , LRG_322t1:c.3G>A	NP_000542.1:p.Met1Ile
NM_198156.2:c.3G>A	NP_937799.1:p.Met1Ile
XM_011534078.1:c.3G>A	XP_011532380.1:p.Met1Ile
NM_001354723.1:c.3G>A	NP_001341652.1:p.Met1Ile
NM_000551.4:c.3G>A MANE Select	NP_000542.1:p.Met1Ile
NM_001354723.2:c.3G>A	NP_001341652.1:p.Met1Ile
NM_198156.3:c.3G>A	NP_937799.1:p.Met1Ile