Canonical Allele Identifier: CA10614863
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 342477
ClinVar RCV Id: RCV000319407
dbSNP Id: rs886057741

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152536A>G , CM000665.2:g.10152536A>G GRCh38
NC_000003.11:g.10194220A>G , CM000665.1:g.10194220A>G GRCh37
NC_000003.10:g.10169220A>G NCBI36
NG_008212.3:g.15902A>G , LRG_322:g.15902A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.3:c.*2571A>G MANE Select ENSP00000256474.3:p.=
NM_000551.3:c.*2571A>G , LRG_322t1:c.*2571A>G NP_000542.1:p.=
NM_198156.2:c.*2571A>G NP_937799.1:p.=
NM_001354723.1:c.*2767A>G NP_001341652.1:p.=
NM_000551.4:c.*2571A>G MANE Select NP_000542.1:p.=
NM_001354723.2:c.*2767A>G NP_001341652.1:p.=
NM_198156.3:c.*2571A>G NP_937799.1:p.=