Canonical Allele Identifier: CA1044998115

Gene: VHL

Linked Data

• dbSNP Id: rs1696290376
• gnomAD v3: 3-10147464-A-C
• gnomAD v4: 3-10147464-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10147464A>C , CM000665.2:g.10147464A>C	GRCh38
NC_000003.11:g.10189148A>C , CM000665.1:g.10189148A>C	GRCh37
NC_000003.10:g.10164148A>C	NCBI36
NG_008212.3:g.10830A>C , LRG_322:g.10830A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*140+828A>C	ENSP00000512434.1:n.*140+828A>C
ENST00000696143.1:c.600-2323A>C	ENSP00000512435.1:n.600-2323A>C
ENST00000696153.1:c.463+828A>C	ENSP00000512444.1:n.463+828A>C
ENST00000256474.3:c.463+828A>C MANE Select	ENSP00000256474.3:n.463+828A>C
ENST00000256474.2:c.463+828A>C	ENSP00000256474.2:n.463+828A>C
ENST00000345392.2:c.341-2323A>C	ENSP00000344757.2:n.341-2323A>C
ENST00000477538.1:n.599+828A>C
NM_000551.3:c.463+828A>C , LRG_322t1:c.463+828A>C	NP_000542.1:n.463+828A>C
NM_198156.2:c.341-2323A>C	NP_937799.1:n.341-2323A>C
NM_001354723.1:c.*18-2323A>C	NP_001341652.1:n.*18-2323A>C
NM_000551.4:c.463+828A>C MANE Select	NP_000542.1:n.463+828A>C
NM_001354723.2:c.*18-2323A>C	NP_001341652.1:n.*18-2323A>C
NM_198156.3:c.341-2323A>C	NP_937799.1:n.341-2323A>C