Canonical Allele Identifier: CA351756277
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1559429750
COSMIC: COSM18000
MyVariant Identifiers: chr3:g.10191546T>A (hg19) chr3:g.10149862T>A (hg38)
CIViC: CA351756277
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149862T>A , CM000665.2:g.10149862T>A GRCh38
NC_000003.11:g.10191546T>A , CM000665.1:g.10191546T>A GRCh37
NC_000003.10:g.10166546T>A NCBI36
NG_008212.3:g.13228T>A , LRG_322:g.13228T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*216T>A ENSP00000512434.1:n.*216T>A
ENST00000696143.1:c.675T>A ENSP00000512435.1:n.675T>A
ENST00000696153.1:c.650T>A ENSP00000512444.1:p.Ile217Asn
ENST00000256474.3:c.539T>A MANE Select ENSP00000256474.3:p.Ile180Asn
ENST00000256474.2:c.539T>A ENSP00000256474.2:p.Ile180Asn
ENST00000345392.2:c.416T>A ENSP00000344757.2:p.Ile139Asn
ENST00000477538.1:n.675T>A
NM_000551.3:c.539T>A , LRG_322t1:c.539T>A NP_000542.1:p.Ile180Asn
NM_198156.2:c.416T>A NP_937799.1:p.Ile139Asn
NM_001354723.1:c.*93T>A NP_001341652.1:n.*93T>A
NM_000551.4:c.539T>A MANE Select NP_000542.1:p.Ile180Asn
NM_001354723.2:c.*93T>A NP_001341652.1:n.*93T>A
NM_198156.3:c.416T>A NP_937799.1:p.Ile139Asn
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