Canonical Allele Identifier: CA10614427
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 342488
ClinVar RCV Id: RCV000313775
dbSNP Id: rs886057748
MyVariant Identifiers: chr3:g.10194461A>C (hg19) chr3:g.10152777A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152777A>C , CM000665.2:g.10152777A>C GRCh38
NC_000003.11:g.10194461A>C , CM000665.1:g.10194461A>C GRCh37
NC_000003.10:g.10169461A>C NCBI36
NG_008212.3:g.16143A>C , LRG_322:g.16143A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*2812A>C ENSP00000512444.1:n.*2812A>C
ENST00000256474.3:c.*2812A>C MANE Select ENSP00000256474.3:n.*2812A>C
NM_000551.3:c.*2812A>C , LRG_322t1:c.*2812A>C NP_000542.1:n.*2812A>C
NM_198156.2:c.*2812A>C NP_937799.1:n.*2812A>C
NM_001354723.1:c.*3008A>C NP_001341652.1:n.*3008A>C
NM_000551.4:c.*2812A>C MANE Select NP_000542.1:n.*2812A>C
NM_001354723.2:c.*3008A>C NP_001341652.1:n.*3008A>C
NM_198156.3:c.*2812A>C NP_937799.1:n.*2812A>C
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