Canonical Allele Identifier: CA351756186
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1553620323
MyVariant Identifiers: chr3:g.10191511C>A (hg19) chr3:g.10149827C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149827C>A , CM000665.2:g.10149827C>A GRCh38
NC_000003.11:g.10191511C>A , CM000665.1:g.10191511C>A GRCh37
NC_000003.10:g.10166511C>A NCBI36
NG_008212.3:g.13193C>A , LRG_322:g.13193C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*181C>A ENSP00000512434.1:n.*181C>A
ENST00000696143.1:c.640C>A ENSP00000512435.1:n.640C>A
ENST00000696153.1:c.615C>A ENSP00000512444.1:p.Ser205Arg
ENST00000256474.3:c.504C>A MANE Select ENSP00000256474.3:p.Ser168Arg
ENST00000256474.2:c.504C>A ENSP00000256474.2:p.Ser168Arg
ENST00000345392.2:c.381C>A ENSP00000344757.2:p.Ser127Arg
ENST00000477538.1:n.640C>A
NM_000551.3:c.504C>A , LRG_322t1:c.504C>A NP_000542.1:p.Ser168Arg
NM_198156.2:c.381C>A NP_937799.1:p.Ser127Arg
NM_001354723.1:c.*58C>A NP_001341652.1:n.*58C>A
NM_000551.4:c.504C>A MANE Select NP_000542.1:p.Ser168Arg
NM_001354723.2:c.*58C>A NP_001341652.1:n.*58C>A
NM_198156.3:c.381C>A NP_937799.1:p.Ser127Arg
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