Canonical Allele Identifier: CA70048100

Gene: VHL

Linked Data

• dbSNP Id: rs574959837
• gnomAD v3: 3-10144934-A-C
• gnomAD v4: 3-10144934-A-C
• MyVariant Identifiers: chr3:g.10186618A>C (hg19) ; chr3:g.10144934A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144934A>C , CM000665.2:g.10144934A>C	GRCh38
NC_000003.11:g.10186618A>C , CM000665.1:g.10186618A>C	GRCh37
NC_000003.10:g.10161618A>C	NCBI36
NG_008212.3:g.8300A>C , LRG_322:g.8300A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*18-1580A>C	ENSP00000512434.1:n.*18-1580A>C
ENST00000696143.1:c.599+1913A>C	ENSP00000512435.1:n.599+1913A>C
ENST00000696153.1:c.341-1580A>C	ENSP00000512444.1:n.341-1580A>C
ENST00000256474.3:c.341-1580A>C MANE Select	ENSP00000256474.3:n.341-1580A>C
ENST00000256474.2:c.341-1580A>C	ENSP00000256474.2:n.341-1580A>C
ENST00000345392.2:c.340+2747A>C	ENSP00000344757.2:n.340+2747A>C
ENST00000477538.1:n.477-1580A>C
NM_000551.3:c.341-1580A>C , LRG_322t1:c.341-1580A>C	NP_000542.1:n.341-1580A>C
NM_198156.2:c.340+2747A>C	NP_937799.1:n.340+2747A>C
XM_011534078.1:c.*18-1580A>C	XP_011532380.1:n.*18-1580A>C
NM_001354723.1:c.*17+1913A>C	NP_001341652.1:n.*17+1913A>C
NM_000551.4:c.341-1580A>C MANE Select	NP_000542.1:n.341-1580A>C
NM_001354723.2:c.*17+1913A>C	NP_001341652.1:n.*17+1913A>C
NM_198156.3:c.340+2747A>C	NP_937799.1:n.340+2747A>C