Canonical Allele Identifier: CA351756184
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs2125130551
MyVariant Identifiers: chr3:g.10191510G>T (hg19) chr3:g.10149826G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149826G>T , CM000665.2:g.10149826G>T GRCh38
NC_000003.11:g.10191510G>T , CM000665.1:g.10191510G>T GRCh37
NC_000003.10:g.10166510G>T NCBI36
NG_008212.3:g.13192G>T , LRG_322:g.13192G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*180G>T ENSP00000512434.1:n.*180G>T
ENST00000696143.1:c.639G>T ENSP00000512435.1:n.639G>T
ENST00000696153.1:c.614G>T ENSP00000512444.1:p.Ser205Ile
ENST00000256474.3:c.503G>T MANE Select ENSP00000256474.3:p.Ser168Ile
ENST00000256474.2:c.503G>T ENSP00000256474.2:p.Ser168Ile
ENST00000345392.2:c.380G>T ENSP00000344757.2:p.Ser127Ile
ENST00000477538.1:n.639G>T
NM_000551.3:c.503G>T , LRG_322t1:c.503G>T NP_000542.1:p.Ser168Ile
NM_198156.2:c.380G>T NP_937799.1:p.Ser127Ile
NM_001354723.1:c.*57G>T NP_001341652.1:n.*57G>T
NM_000551.4:c.503G>T MANE Select NP_000542.1:p.Ser168Ile
NM_001354723.2:c.*57G>T NP_001341652.1:n.*57G>T
NM_198156.3:c.380G>T NP_937799.1:p.Ser127Ile
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