Canonical Allele Identifier: CA10616706
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 342484
ClinVar RCV Id: RCV000383011
dbSNP Id: rs538719970
gnomAD v2: 3-10194365-G-A
gnomAD v3: 3-10152681-G-A
gnomAD v4: 3-10152681-G-A
MyVariant Identifiers: chr3:g.10194365G>A (hg19) chr3:g.10152681G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152681G>A , CM000665.2:g.10152681G>A GRCh38
NC_000003.11:g.10194365G>A , CM000665.1:g.10194365G>A GRCh37
NC_000003.10:g.10169365G>A NCBI36
NG_008212.3:g.16047G>A , LRG_322:g.16047G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*2716G>A ENSP00000512444.1:n.*2716G>A
ENST00000256474.3:c.*2716G>A MANE Select ENSP00000256474.3:n.*2716G>A
NM_000551.3:c.*2716G>A , LRG_322t1:c.*2716G>A NP_000542.1:n.*2716G>A
NM_198156.2:c.*2716G>A NP_937799.1:n.*2716G>A
NM_001354723.1:c.*2912G>A NP_001341652.1:n.*2912G>A
NM_000551.4:c.*2716G>A MANE Select NP_000542.1:n.*2716G>A
NM_001354723.2:c.*2912G>A NP_001341652.1:n.*2912G>A
NM_198156.3:c.*2716G>A NP_937799.1:n.*2716G>A
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