Canonical Allele Identifier: CA10614436
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 342500
ClinVar RCV Id: RCV000329203
dbSNP Id: rs112130915
gnomAD v2: 3-10195001-G-A
gnomAD v3: 3-10153317-G-A
gnomAD v4: 3-10153317-G-A
MyVariant Identifiers: chr3:g.10195001G>A (hg19) chr3:g.10153317G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10153317G>A , CM000665.2:g.10153317G>A GRCh38
NC_000003.11:g.10195001G>A , CM000665.1:g.10195001G>A GRCh37
NC_000003.10:g.10170001G>A NCBI36
NG_008212.3:g.16683G>A , LRG_322:g.16683G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*3352G>A ENSP00000512444.1:n.*3352G>A
ENST00000256474.3:c.*3352G>A MANE Select ENSP00000256474.3:n.*3352G>A
NM_000551.3:c.*3352G>A , LRG_322t1:c.*3352G>A NP_000542.1:n.*3352G>A
NM_198156.2:c.*3352G>A NP_937799.1:n.*3352G>A
NM_001354723.1:c.*3548G>A NP_001341652.1:n.*3548G>A
NM_000551.4:c.*3352G>A MANE Select NP_000542.1:n.*3352G>A
NM_001354723.2:c.*3548G>A NP_001341652.1:n.*3548G>A
NM_198156.3:c.*3352G>A NP_937799.1:n.*3352G>A
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