Canonical Allele Identifier: CA1345065214
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1696433532

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152428T>A , CM000665.2:g.10152428T>A GRCh38
NC_000003.11:g.10194112T>A , CM000665.1:g.10194112T>A GRCh37
NC_000003.10:g.10169112T>A NCBI36
NG_008212.3:g.15794T>A , LRG_322:g.15794T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*2463T>A ENSP00000512444.1:n.*2463T>A
ENST00000256474.3:c.*2463T>A MANE Select ENSP00000256474.3:n.*2463T>A
NM_000551.3:c.*2463T>A , LRG_322t1:c.*2463T>A NP_000542.1:n.*2463T>A
NM_198156.2:c.*2463T>A NP_937799.1:n.*2463T>A
NM_001354723.1:c.*2659T>A NP_001341652.1:n.*2659T>A
NM_000551.4:c.*2463T>A MANE Select NP_000542.1:n.*2463T>A
NM_001354723.2:c.*2659T>A NP_001341652.1:n.*2659T>A
NM_198156.3:c.*2463T>A NP_937799.1:n.*2463T>A