Canonical Allele Identifier: CA10614396
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 342409
ClinVar RCV Id: RCV000313063
dbSNP Id: rs886057706

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10150314G>T , CM000665.2:g.10150314G>T GRCh38
NC_000003.11:g.10191998G>T , CM000665.1:g.10191998G>T GRCh37
NC_000003.10:g.10166998G>T NCBI36
NG_008212.3:g.13680G>T , LRG_322:g.13680G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.3:c.*349G>T MANE Select ENSP00000256474.3:p.=
ENST00000256474.2:c.*349G>T ENSP00000256474.2:p.=
ENST00000345392.2:c.*349G>T ENSP00000344757.2:p.=
NM_000551.3:c.*349G>T , LRG_322t1:c.*349G>T NP_000542.1:p.=
NM_198156.2:c.*349G>T NP_937799.1:p.=
NM_001354723.1:c.*545G>T NP_001341652.1:p.=
NM_000551.4:c.*349G>T MANE Select NP_000542.1:p.=
NM_001354723.2:c.*545G>T NP_001341652.1:p.=
NM_198156.3:c.*349G>T NP_937799.1:p.=