Canonical Allele Identifier: CA040305

Gene: VHL

Linked Data

• ClinVar Variation Id: 223187
• ClinVar RCV Id: RCV000208866 ; RCV000492675 ; RCV001204150
• dbSNP Id: rs765978945
• ExAC: 3:10183864 C / G
• COSMIC: COSM17894
• MyVariant Identifiers: chr3:g.10183864C>G (hg19) ; chr3:g.10142180C>G (hg38)
• CIViC: CA040305
• PCER: P-CER:CA040305/193300
• PubMed: PMID:7728151 ; PMID:12004076 ; PMID:12050673 ; PMID:12114495 ; PMID:22071692 ; PMID:22105711 ; PMID:23102223 ; PMID:24727139

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142180C>G , CM000665.2:g.10142180C>G	GRCh38
NC_000003.11:g.10183864C>G , CM000665.1:g.10183864C>G	GRCh37
NC_000003.10:g.10158864C>G	NCBI36
NG_008212.3:g.5546C>G , LRG_322:g.5546C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.333C>G	ENSP00000512434.1:p.Ser111Arg
ENST00000696143.1:c.333C>G	ENSP00000512435.1:p.Ser111Arg
ENST00000696153.1:c.333C>G	ENSP00000512444.1:p.Ser111Arg
ENST00000256474.3:c.333C>G MANE Select	ENSP00000256474.3:p.Ser111Arg
ENST00000256474.2:c.333C>G	ENSP00000256474.2:p.Ser111Arg
ENST00000345392.2:c.333C>G	ENSP00000344757.2:p.Ser111Arg
NM_000551.3:c.333C>G , LRG_322t1:c.333C>G	NP_000542.1:p.Ser111Arg
NM_198156.2:c.333C>G	NP_937799.1:p.Ser111Arg
XM_011534078.1:c.333C>G	XP_011532380.1:p.Ser111Arg
NM_001354723.1:c.333C>G	NP_001341652.1:p.Ser111Arg
NM_000551.4:c.333C>G MANE Select	NP_000542.1:p.Ser111Arg
NM_001354723.2:c.333C>G	NP_001341652.1:p.Ser111Arg
NM_198156.3:c.333C>G	NP_937799.1:p.Ser111Arg