Canonical Allele Identifier: CA432536387

Gene: VHL

Linked Data

• ClinVar Variation Id: 2125817
• ClinVar RCV Id: RCV003043808
• gnomAD v4: 3-10142034-C-T
• MyVariant Identifiers: chr3:g.10183718C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142034C>T , CM000665.2:g.10142034C>T	GRCh38
NC_000003.11:g.10183718C>T , CM000665.1:g.10183718C>T	GRCh37
NC_000003.10:g.10158718C>T	NCBI36
NG_008212.3:g.5400C>T , LRG_322:g.5400C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.187C>T	ENSP00000512434.1:p.Leu63=
ENST00000696143.1:c.187C>T	ENSP00000512435.1:p.Leu63=
ENST00000696153.1:c.187C>T	ENSP00000512444.1:p.Leu63=
ENST00000256474.3:c.187C>T MANE Select	ENSP00000256474.3:p.Leu63=
ENST00000256474.2:c.187C>T	ENSP00000256474.2:p.Leu63=
ENST00000345392.2:c.187C>T	ENSP00000344757.2:p.Leu63=
NM_000551.3:c.187C>T , LRG_322t1:c.187C>T	NP_000542.1:p.Leu63=
NM_198156.2:c.187C>T	NP_937799.1:p.Leu63=
XM_011534078.1:c.187C>T	XP_011532380.1:p.Leu63=
NM_001354723.1:c.187C>T	NP_001341652.1:p.Leu63=
NM_000551.4:c.187C>T MANE Select	NP_000542.1:p.Leu63=
NM_001354723.2:c.187C>T	NP_001341652.1:p.Leu63=
NM_198156.3:c.187C>T	NP_937799.1:p.Leu63=