Canonical Allele Identifier: CA2592313139

Gene: VHL

Linked Data

• dbSNP Id: rs2125124178
• gnomAD v3: 3-10141722-T-G
• gnomAD v4: 3-10141722-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141722T>G , CM000665.2:g.10141722T>G	GRCh38
NC_000003.11:g.10183406T>G , CM000665.1:g.10183406T>G	GRCh37
NC_000003.10:g.10158406T>G	NCBI36
NG_008212.3:g.5088T>G , LRG_322:g.5088T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000256474.2:c.-126T>G	ENSP00000256474.2:n.-126T>G
NM_000551.3:c.-126T>G , LRG_322t1:c.-126T>G	NP_000542.1:n.-126T>G
NM_198156.2:c.-126T>G	NP_937799.1:n.-126T>G
NM_001354723.1:c.-126T>G	NP_001341652.1:n.-126T>G