Canonical Allele Identifier: CA2740090911

Gene: VHL

Linked Data

• ClinVar Variation Id: 2947247
• ClinVar RCV Id: RCV003801437

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142771A>T , CM000665.2:g.10142771A>T	GRCh38
NC_000003.11:g.10184455A>T , CM000665.1:g.10184455A>T	GRCh37
NC_000003.10:g.10159455A>T	NCBI36
NG_008212.3:g.6137A>T , LRG_322:g.6137A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.349A>T	ENSP00000512434.1:p.Thr117Ser
ENST00000696143.1:c.349A>T	ENSP00000512435.1:p.Thr117Ser
ENST00000696153.1:c.340+584A>T	ENSP00000512444.1:n.340+584A>T
ENST00000256474.3:c.340+584A>T MANE Select	ENSP00000256474.3:n.340+584A>T
ENST00000256474.2:c.340+584A>T	ENSP00000256474.2:n.340+584A>T
ENST00000345392.2:c.340+584A>T	ENSP00000344757.2:n.340+584A>T
ENST00000477538.1:n.226A>T
NM_000551.3:c.340+584A>T , LRG_322t1:c.340+584A>T	NP_000542.1:n.340+584A>T
NM_198156.2:c.340+584A>T	NP_937799.1:n.340+584A>T
XM_011534078.1:c.349A>T	XP_011532380.1:p.Thr117Ser
NM_001354723.1:c.349A>T	NP_001341652.1:p.Thr117Ser
NM_000551.4:c.340+584A>T MANE Select	NP_000542.1:n.340+584A>T
NM_001354723.2:c.349A>T	NP_001341652.1:p.Thr117Ser
NM_198156.3:c.340+584A>T	NP_937799.1:n.340+584A>T