Canonical Allele Identifier: CA2580068466

Gene: VHL

Linked Data

• ClinVar Variation Id: 2195856
• ClinVar RCV Id: RCV002628996
• dbSNP Id: rs2125128568

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146650A>C , CM000665.2:g.10146650A>C	GRCh38
NC_000003.11:g.10188334A>C , CM000665.1:g.10188334A>C	GRCh37
NC_000003.10:g.10163334A>C	NCBI36
NG_008212.3:g.10016A>C , LRG_322:g.10016A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*140+14A>C	ENSP00000512434.1:n.*140+14A>C
ENST00000696143.1:c.600-3137A>C	ENSP00000512435.1:n.600-3137A>C
ENST00000696153.1:c.463+14A>C	ENSP00000512444.1:n.463+14A>C
ENST00000256474.3:c.463+14A>C MANE Select	ENSP00000256474.3:n.463+14A>C
ENST00000256474.2:c.463+14A>C	ENSP00000256474.2:n.463+14A>C
ENST00000345392.2:c.341-3137A>C	ENSP00000344757.2:n.341-3137A>C
ENST00000477538.1:n.599+14A>C
NM_000551.3:c.463+14A>C , LRG_322t1:c.463+14A>C	NP_000542.1:n.463+14A>C
NM_198156.2:c.341-3137A>C	NP_937799.1:n.341-3137A>C
NM_001354723.1:c.*18-3137A>C	NP_001341652.1:n.*18-3137A>C
NM_000551.4:c.463+14A>C MANE Select	NP_000542.1:n.463+14A>C
NM_001354723.2:c.*18-3137A>C	NP_001341652.1:n.*18-3137A>C
NM_198156.3:c.341-3137A>C	NP_937799.1:n.341-3137A>C