Canonical Allele Identifier: CA541213470

Gene: VHL

Linked Data

• dbSNP Id: rs1424661093
• gnomAD v2: 3-10183334-A-G
• gnomAD v3: 3-10141650-A-G
• gnomAD v4: 3-10141650-A-G
• MyVariant Identifiers: chr3:g.10183334A>G (hg19) ; chr3:g.10141650A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141650A>G , CM000665.2:g.10141650A>G	GRCh38
NC_000003.11:g.10183334A>G , CM000665.1:g.10183334A>G	GRCh37
NC_000003.10:g.10158334A>G	NCBI36
NG_008212.3:g.5016A>G , LRG_322:g.5016A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256474.2:c.-198A>G	ENSP00000256474.2:n.-198A>G
NM_000551.3:c.-198A>G , LRG_322t1:c.-198A>G	NP_000542.1:n.-198A>G
NM_198156.2:c.-198A>G	NP_937799.1:n.-198A>G
NM_001354723.1:c.-198A>G	NP_001341652.1:n.-198A>G