Canonical Allele Identifier: CA351756065

Gene: VHL

Linked Data

• dbSNP Id: rs869025660
• gnomAD v4: 3-10149793-C-G
• MyVariant Identifiers: chr3:g.10191477C>G (hg19) ; chr3:g.10149793C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149793C>G , CM000665.2:g.10149793C>G	GRCh38
NC_000003.11:g.10191477C>G , CM000665.1:g.10191477C>G	GRCh37
NC_000003.10:g.10166477C>G	NCBI36
NG_008212.3:g.13159C>G , LRG_322:g.13159C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*147C>G	ENSP00000512434.1:n.*147C>G
ENST00000696143.1:c.606C>G	ENSP00000512435.1:n.606C>G
ENST00000696153.1:c.581C>G	ENSP00000512444.1:p.Thr194Ser
ENST00000256474.3:c.470C>G MANE Select	ENSP00000256474.3:p.Thr157Ser
ENST00000256474.2:c.470C>G	ENSP00000256474.2:p.Thr157Ser
ENST00000345392.2:c.347C>G	ENSP00000344757.2:p.Thr116Ser
ENST00000477538.1:n.606C>G
NM_000551.3:c.470C>G , LRG_322t1:c.470C>G	NP_000542.1:p.Thr157Ser
NM_198156.2:c.347C>G	NP_937799.1:p.Thr116Ser
NM_001354723.1:c.*24C>G	NP_001341652.1:n.*24C>G
NM_000551.4:c.470C>G MANE Select	NP_000542.1:p.Thr157Ser
NM_001354723.2:c.*24C>G	NP_001341652.1:n.*24C>G
NM_198156.3:c.347C>G	NP_937799.1:p.Thr116Ser