Canonical Allele Identifier: CA020514

Gene: VHL

Linked Data

• ClinVar Variation Id: 182989
• ClinVar RCV Id: RCV000566000 ; RCV000679011 ; RCV002053943 ; RCV001818360 ; RCV003998532
• dbSNP Id: rs35793832
• ExAC: 3:10183527 A / C
• gnomAD v2: 3-10183527-A-C
• gnomAD v3: 3-10141843-A-C
• gnomAD v4: 3-10141843-A-C
• MyVariant Identifiers: chr3:g.10183527A>C (hg19) ; chr3:g.10141843A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141843A>C , CM000665.2:g.10141843A>C	GRCh38
NC_000003.11:g.10183527A>C , CM000665.1:g.10183527A>C	GRCh37
NC_000003.10:g.10158527A>C	NCBI36
NG_008212.3:g.5209A>C , LRG_322:g.5209A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.-5A>C	ENSP00000512434.1:n.-5A>C
ENST00000696153.1:c.-5A>C	ENSP00000512444.1:n.-5A>C
ENST00000256474.3:c.-5A>C MANE Select	ENSP00000256474.3:n.-5A>C
ENST00000256474.2:c.-5A>C	ENSP00000256474.2:n.-5A>C
ENST00000345392.2:c.-5A>C	ENSP00000344757.2:n.-5A>C
NM_000551.3:c.-5A>C , LRG_322t1:c.-5A>C	NP_000542.1:n.-5A>C
NM_198156.2:c.-5A>C	NP_937799.1:n.-5A>C
XM_011534078.1:c.-5A>C	XP_011532380.1:n.-5A>C
NM_001354723.1:c.-5A>C	NP_001341652.1:n.-5A>C
NM_000551.4:c.-5A>C MANE Select	NP_000542.1:n.-5A>C
NM_001354723.2:c.-5A>C	NP_001341652.1:n.-5A>C
NM_198156.3:c.-5A>C	NP_937799.1:n.-5A>C