Canonical Allele Identifier: CA039923

Gene: VHL

Linked Data

• ClinVar Variation Id: 560734
• ClinVar RCV Id: RCV000679008
• dbSNP Id: rs760414295
• ExAC: 3:10183509 G / C
• gnomAD v2: 3-10183509-G-C
• gnomAD v3: 3-10141825-G-C
• gnomAD v4: 3-10141825-G-C
• MyVariant Identifiers: chr3:g.10183509G>C (hg19) ; chr3:g.10141825G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141825G>C , CM000665.2:g.10141825G>C	GRCh38
NC_000003.11:g.10183509G>C , CM000665.1:g.10183509G>C	GRCh37
NC_000003.10:g.10158509G>C	NCBI36
NG_008212.3:g.5191G>C , LRG_322:g.5191G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.-23G>C	ENSP00000512434.1:n.-23G>C
ENST00000696153.1:c.-23G>C	ENSP00000512444.1:n.-23G>C
ENST00000256474.3:c.-23G>C MANE Select	ENSP00000256474.3:n.-23G>C
ENST00000256474.2:c.-23G>C	ENSP00000256474.2:n.-23G>C
ENST00000345392.2:c.-23G>C	ENSP00000344757.2:n.-23G>C
NM_000551.3:c.-23G>C , LRG_322t1:c.-23G>C	NP_000542.1:n.-23G>C
NM_198156.2:c.-23G>C	NP_937799.1:n.-23G>C
XM_011534078.1:c.-23G>C	XP_011532380.1:n.-23G>C
NM_001354723.1:c.-23G>C	NP_001341652.1:n.-23G>C
NM_000551.4:c.-23G>C MANE Select	NP_000542.1:n.-23G>C
NM_001354723.2:c.-23G>C	NP_001341652.1:n.-23G>C
NM_198156.3:c.-23G>C	NP_937799.1:n.-23G>C