Canonical Allele Identifier: CA351756433

Gene: VHL

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149897C>A , CM000665.2:g.10149897C>A	GRCh38
NC_000003.11:g.10191581C>A , CM000665.1:g.10191581C>A	GRCh37
NC_000003.10:g.10166581C>A	NCBI36
NG_008212.3:g.13263C>A , LRG_322:g.13263C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*251C>A	ENSP00000512434.1:n.*251C>A
ENST00000696143.1:c.710C>A	ENSP00000512435.1:n.710C>A
ENST00000696153.1:c.685C>A	ENSP00000512444.1:p.Pro229Thr
ENST00000256474.3:c.574C>A MANE Select	ENSP00000256474.3:p.Pro192Thr
ENST00000256474.2:c.574C>A	ENSP00000256474.2:p.Pro192Thr
ENST00000345392.2:c.451C>A	ENSP00000344757.2:p.Pro151Thr
ENST00000477538.1:n.710C>A
NM_000551.3:c.574C>A , LRG_322t1:c.574C>A	NP_000542.1:p.Pro192Thr
NM_198156.2:c.451C>A	NP_937799.1:p.Pro151Thr
NM_001354723.1:c.*128C>A	NP_001341652.1:n.*128C>A
NM_000551.4:c.574C>A MANE Select	NP_000542.1:p.Pro192Thr
NM_001354723.2:c.*128C>A	NP_001341652.1:n.*128C>A
NM_198156.3:c.451C>A	NP_937799.1:p.Pro151Thr