Canonical Allele Identifier: CA1345063450

Gene: VHL

Linked Data

• dbSNP Id: rs1575933130
• gnomAD v4: 3-10150256-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150256T>C , CM000665.2:g.10150256T>C	GRCh38
NC_000003.11:g.10191940T>C , CM000665.1:g.10191940T>C	GRCh37
NC_000003.10:g.10166940T>C	NCBI36
NG_008212.3:g.13622T>C , LRG_322:g.13622T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*610T>C	ENSP00000512434.1:n.*610T>C
ENST00000696143.1:c.1069T>C	ENSP00000512435.1:n.1069T>C
ENST00000696153.1:c.*291T>C	ENSP00000512444.1:n.*291T>C
ENST00000256474.3:c.*291T>C MANE Select	ENSP00000256474.3:n.*291T>C
ENST00000256474.2:c.*291T>C	ENSP00000256474.2:n.*291T>C
ENST00000345392.2:c.*291T>C	ENSP00000344757.2:n.*291T>C
NM_000551.3:c.*291T>C , LRG_322t1:c.*291T>C	NP_000542.1:n.*291T>C
NM_198156.2:c.*291T>C	NP_937799.1:n.*291T>C
NM_001354723.1:c.*487T>C	NP_001341652.1:n.*487T>C
NM_000551.4:c.*291T>C MANE Select	NP_000542.1:n.*291T>C
NM_001354723.2:c.*487T>C	NP_001341652.1:n.*487T>C
NM_198156.3:c.*291T>C	NP_937799.1:n.*291T>C