Canonical Allele Identifier: CA1045000911
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs2125132418
gnomAD v3: 3-10152473-C-A
gnomAD v4: 3-10152473-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152473C>A , CM000665.2:g.10152473C>A GRCh38
NC_000003.11:g.10194157C>A , CM000665.1:g.10194157C>A GRCh37
NC_000003.10:g.10169157C>A NCBI36
NG_008212.3:g.15839C>A , LRG_322:g.15839C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*2508C>A ENSP00000512444.1:n.*2508C>A
ENST00000256474.3:c.*2508C>A MANE Select ENSP00000256474.3:n.*2508C>A
NM_000551.3:c.*2508C>A , LRG_322t1:c.*2508C>A NP_000542.1:n.*2508C>A
NM_198156.2:c.*2508C>A NP_937799.1:n.*2508C>A
NM_001354723.1:c.*2704C>A NP_001341652.1:n.*2704C>A
NM_000551.4:c.*2508C>A MANE Select NP_000542.1:n.*2508C>A
NM_001354723.2:c.*2704C>A NP_001341652.1:n.*2704C>A
NM_198156.3:c.*2508C>A NP_937799.1:n.*2508C>A
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