Canonical Allele Identifier: CA541213476

Gene: VHL

Linked Data

• dbSNP Id: rs1324043928
• gnomAD v2: 3-10183403-C-G
• gnomAD v3: 3-10141719-C-G
• gnomAD v4: 3-10141719-C-G
• MyVariant Identifiers: chr3:g.10183403C>G (hg19) ; chr3:g.10141719C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141719C>G , CM000665.2:g.10141719C>G	GRCh38
NC_000003.11:g.10183403C>G , CM000665.1:g.10183403C>G	GRCh37
NC_000003.10:g.10158403C>G	NCBI36
NG_008212.3:g.5085C>G , LRG_322:g.5085C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000256474.2:c.-129C>G	ENSP00000256474.2:n.-129C>G
NM_000551.3:c.-129C>G , LRG_322t1:c.-129C>G	NP_000542.1:n.-129C>G
NM_198156.2:c.-129C>G	NP_937799.1:n.-129C>G
NM_001354723.1:c.-129C>G	NP_001341652.1:n.-129C>G