Canonical Allele Identifier: CA647445778

Gene: VHL

Linked Data

• dbSNP Id: rs920035142
• gnomAD v4: 3-10149749-C-A
• COSMIC: COSN20045953

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149749C>A , CM000665.2:g.10149749C>A	GRCh38
NC_000003.11:g.10191433C>A , CM000665.1:g.10191433C>A	GRCh37
NC_000003.10:g.10166433C>A	NCBI36
NG_008212.3:g.13115C>A , LRG_322:g.13115C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*141-38C>A	ENSP00000512434.1:n.*141-38C>A
ENST00000696143.1:c.600-38C>A	ENSP00000512435.1:n.600-38C>A
ENST00000696153.1:c.575-38C>A	ENSP00000512444.1:n.575-38C>A
ENST00000256474.3:c.464-38C>A MANE Select	ENSP00000256474.3:n.464-38C>A
ENST00000256474.2:c.464-38C>A	ENSP00000256474.2:n.464-38C>A
ENST00000345392.2:c.341-38C>A	ENSP00000344757.2:n.341-38C>A
ENST00000477538.1:n.600-38C>A
NM_000551.3:c.464-38C>A , LRG_322t1:c.464-38C>A	NP_000542.1:n.464-38C>A
NM_198156.2:c.341-38C>A	NP_937799.1:n.341-38C>A
NM_001354723.1:c.*18-38C>A	NP_001341652.1:n.*18-38C>A
NM_000551.4:c.464-38C>A MANE Select	NP_000542.1:n.464-38C>A
NM_001354723.2:c.*18-38C>A	NP_001341652.1:n.*18-38C>A
NM_198156.3:c.341-38C>A	NP_937799.1:n.341-38C>A