Canonical Allele Identifier: CA1345067421

Gene: VHL

Linked Data

• ClinVar Variation Id: 1024533
• ClinVar RCV Id: RCV001324732
• dbSNP Id: rs1575923399

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142913C>T , CM000665.2:g.10142913C>T	GRCh38
NC_000003.11:g.10184597C>T , CM000665.1:g.10184597C>T	GRCh37
NC_000003.10:g.10159597C>T	NCBI36
NG_008212.3:g.6279C>T , LRG_322:g.6279C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.491C>T	ENSP00000512434.1:p.Thr164Ile
ENST00000696143.1:c.491C>T	ENSP00000512435.1:p.Thr164Ile
ENST00000696153.1:c.340+726C>T	ENSP00000512444.1:n.340+726C>T
ENST00000256474.3:c.340+726C>T MANE Select	ENSP00000256474.3:n.340+726C>T
ENST00000256474.2:c.340+726C>T	ENSP00000256474.2:n.340+726C>T
ENST00000345392.2:c.340+726C>T	ENSP00000344757.2:n.340+726C>T
ENST00000477538.1:n.368C>T
NM_000551.3:c.340+726C>T , LRG_322t1:c.340+726C>T	NP_000542.1:n.340+726C>T
NM_198156.2:c.340+726C>T	NP_937799.1:n.340+726C>T
XM_011534078.1:c.491C>T	XP_011532380.1:p.Thr164Ile
NM_001354723.1:c.491C>T	NP_001341652.1:p.Thr164Ile
NM_000551.4:c.340+726C>T MANE Select	NP_000542.1:n.340+726C>T
NM_001354723.2:c.491C>T	NP_001341652.1:p.Thr164Ile
NM_198156.3:c.340+726C>T	NP_937799.1:n.340+726C>T