Canonical Allele Identifier: CA041242

Gene: VHL

Linked Data

• dbSNP Id: rs771222897
• ExAC: 3:10191443 A / C
• gnomAD v2: 3-10191443-A-C
• MyVariant Identifiers: chr3:g.10191443A>C (hg19) ; chr3:g.10149759A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149759A>C , CM000665.2:g.10149759A>C	GRCh38
NC_000003.11:g.10191443A>C , CM000665.1:g.10191443A>C	GRCh37
NC_000003.10:g.10166443A>C	NCBI36
NG_008212.3:g.13125A>C , LRG_322:g.13125A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*141-28A>C	ENSP00000512434.1:n.*141-28A>C
ENST00000696143.1:c.600-28A>C	ENSP00000512435.1:n.600-28A>C
ENST00000696153.1:c.575-28A>C	ENSP00000512444.1:n.575-28A>C
ENST00000256474.3:c.464-28A>C MANE Select	ENSP00000256474.3:n.464-28A>C
ENST00000256474.2:c.464-28A>C	ENSP00000256474.2:n.464-28A>C
ENST00000345392.2:c.341-28A>C	ENSP00000344757.2:n.341-28A>C
ENST00000477538.1:n.600-28A>C
NM_000551.3:c.464-28A>C , LRG_322t1:c.464-28A>C	NP_000542.1:n.464-28A>C
NM_198156.2:c.341-28A>C	NP_937799.1:n.341-28A>C
NM_001354723.1:c.*18-28A>C	NP_001341652.1:n.*18-28A>C
NM_000551.4:c.464-28A>C MANE Select	NP_000542.1:n.464-28A>C
NM_001354723.2:c.*18-28A>C	NP_001341652.1:n.*18-28A>C
NM_198156.3:c.341-28A>C	NP_937799.1:n.341-28A>C