Canonical Allele Identifier: CA020319

Gene: VHL

Linked Data

• ClinVar Variation Id: 2230
• ClinVar RCV Id: RCV000002318 ; RCV001236092
• dbSNP Id: rs104893831
• MyVariant Identifiers: chr3:g.10188233G>T (hg19) ; chr3:g.10146549G>T (hg38)
• PubMed: PMID:12844285
• CIViC: CA020319

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146549G>T , CM000665.2:g.10146549G>T	GRCh38
NC_000003.11:g.10188233G>T , CM000665.1:g.10188233G>T	GRCh37
NC_000003.10:g.10163233G>T	NCBI36
NG_008212.3:g.9915G>T , LRG_322:g.9915G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*53G>T	ENSP00000512434.1:n.*53G>T
ENST00000696143.1:c.600-3238G>T	ENSP00000512435.1:n.600-3238G>T
ENST00000696153.1:c.376G>T	ENSP00000512444.1:p.Asp126Tyr
ENST00000256474.3:c.376G>T MANE Select	ENSP00000256474.3:p.Asp126Tyr
ENST00000256474.2:c.376G>T	ENSP00000256474.2:p.Asp126Tyr
ENST00000345392.2:c.341-3238G>T	ENSP00000344757.2:n.341-3238G>T
ENST00000477538.1:n.512G>T
NM_000551.3:c.376G>T , LRG_322t1:c.376G>T	NP_000542.1:p.Asp126Tyr
NM_198156.2:c.341-3238G>T	NP_937799.1:n.341-3238G>T
XM_011534078.1:c.*53G>T	XP_011532380.1:n.*53G>T
NM_001354723.1:c.*18-3238G>T	NP_001341652.1:n.*18-3238G>T
NM_000551.4:c.376G>T MANE Select	NP_000542.1:p.Asp126Tyr
NM_001354723.2:c.*18-3238G>T	NP_001341652.1:n.*18-3238G>T
NM_198156.3:c.341-3238G>T	NP_937799.1:n.341-3238G>T