Canonical Allele Identifier: CA541213496

Gene: VHL

Linked Data

• ClinVar Variation Id: 902167
• ClinVar RCV Id: RCV001148531
• dbSNP Id: rs775446934
• gnomAD v2: 3-10183506-C-T
• gnomAD v4: 3-10141822-C-T
• COSMIC: COSM3727794
• MyVariant Identifiers: chr3:g.10183506C>T (hg19) ; chr3:g.10141822C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141822C>T , CM000665.2:g.10141822C>T	GRCh38
NC_000003.11:g.10183506C>T , CM000665.1:g.10183506C>T	GRCh37
NC_000003.10:g.10158506C>T	NCBI36
NG_008212.3:g.5188C>T , LRG_322:g.5188C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.-26C>T	ENSP00000512434.1:n.-26C>T
ENST00000696153.1:c.-26C>T	ENSP00000512444.1:n.-26C>T
ENST00000256474.3:c.-26C>T MANE Select	ENSP00000256474.3:n.-26C>T
ENST00000256474.2:c.-26C>T	ENSP00000256474.2:n.-26C>T
ENST00000345392.2:c.-26C>T	ENSP00000344757.2:n.-26C>T
NM_000551.3:c.-26C>T , LRG_322t1:c.-26C>T	NP_000542.1:n.-26C>T
NM_198156.2:c.-26C>T	NP_937799.1:n.-26C>T
XM_011534078.1:c.-26C>T	XP_011532380.1:n.-26C>T
NM_001354723.1:c.-26C>T	NP_001341652.1:n.-26C>T
NM_000551.4:c.-26C>T MANE Select	NP_000542.1:n.-26C>T
NM_001354723.2:c.-26C>T	NP_001341652.1:n.-26C>T
NM_198156.3:c.-26C>T	NP_937799.1:n.-26C>T