Canonical Allele Identifier: CA357075
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 223233
dbSNP Id: rs864622109
COSMIC: COSM18356
CIViC: CA357075

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149878C>G , CM000665.2:g.10149878C>G GRCh38
NC_000003.11:g.10191562C>G , CM000665.1:g.10191562C>G GRCh37
NC_000003.10:g.10166562C>G NCBI36
NG_008212.3:g.13244C>G , LRG_322:g.13244C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*232C>G ENSP00000512434.1:n.*232C>G
ENST00000696143.1:c.691C>G ENSP00000512435.1:n.691C>G
ENST00000696153.1:c.666C>G ENSP00000512444.1:p.Tyr222Ter
ENST00000256474.3:c.555C>G MANE Select ENSP00000256474.3:p.Tyr185Ter
ENST00000256474.2:c.555C>G ENSP00000256474.2:p.Tyr185Ter
ENST00000345392.2:c.432C>G ENSP00000344757.2:p.Tyr144Ter
ENST00000477538.1:n.691C>G
NM_000551.3:c.555C>G , LRG_322t1:c.555C>G NP_000542.1:p.Tyr185Ter
NM_198156.2:c.432C>G NP_937799.1:p.Tyr144Ter
NM_001354723.1:c.*109C>G NP_001341652.1:n.*109C>G
NM_000551.4:c.555C>G MANE Select NP_000542.1:p.Tyr185Ter
NM_001354723.2:c.*109C>G NP_001341652.1:n.*109C>G
NM_198156.3:c.432C>G NP_937799.1:p.Tyr144Ter