Canonical Allele Identifier: CA541213479

Gene: VHL

Linked Data

• dbSNP Id: rs1482301941
• gnomAD v2: 3-10183412-C-T
• gnomAD v3: 3-10141728-C-T
• gnomAD v4: 3-10141728-C-T
• MyVariant Identifiers: chr3:g.10183412C>T (hg19) ; chr3:g.10141728C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141728C>T , CM000665.2:g.10141728C>T	GRCh38
NC_000003.11:g.10183412C>T , CM000665.1:g.10183412C>T	GRCh37
NC_000003.10:g.10158412C>T	NCBI36
NG_008212.3:g.5094C>T , LRG_322:g.5094C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256474.2:c.-120C>T	ENSP00000256474.2:n.-120C>T
NM_000551.3:c.-120C>T , LRG_322t1:c.-120C>T	NP_000542.1:n.-120C>T
NM_198156.2:c.-120C>T	NP_937799.1:n.-120C>T
NM_001354723.1:c.-120C>T	NP_001341652.1:n.-120C>T