Canonical Allele Identifier: CA1345062061

Gene: VHL

Linked Data

• dbSNP Id: rs1575931897

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149746A>C , CM000665.2:g.10149746A>C	GRCh38
NC_000003.11:g.10191430A>C , CM000665.1:g.10191430A>C	GRCh37
NC_000003.10:g.10166430A>C	NCBI36
NG_008212.3:g.13112A>C , LRG_322:g.13112A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*141-41A>C	ENSP00000512434.1:n.*141-41A>C
ENST00000696143.1:c.600-41A>C	ENSP00000512435.1:n.600-41A>C
ENST00000696153.1:c.575-41A>C	ENSP00000512444.1:n.575-41A>C
ENST00000256474.3:c.464-41A>C MANE Select	ENSP00000256474.3:n.464-41A>C
ENST00000256474.2:c.464-41A>C	ENSP00000256474.2:n.464-41A>C
ENST00000345392.2:c.341-41A>C	ENSP00000344757.2:n.341-41A>C
ENST00000477538.1:n.600-41A>C
NM_000551.3:c.464-41A>C , LRG_322t1:c.464-41A>C	NP_000542.1:n.464-41A>C
NM_198156.2:c.341-41A>C	NP_937799.1:n.341-41A>C
NM_001354723.1:c.*18-41A>C	NP_001341652.1:n.*18-41A>C
NM_000551.4:c.464-41A>C MANE Select	NP_000542.1:n.464-41A>C
NM_001354723.2:c.*18-41A>C	NP_001341652.1:n.*18-41A>C
NM_198156.3:c.341-41A>C	NP_937799.1:n.341-41A>C