Canonical Allele Identifier: CA351756196

Gene: VHL

Linked Data

• dbSNP Id: rs864321642
• MyVariant Identifiers: chr3:g.10191516T>G (hg19) ; chr3:g.10149832T>G (hg38)
• PCER: P-CER:CA351756196/193300
• CIViC: CA351756196

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149832T>G , CM000665.2:g.10149832T>G	GRCh38
NC_000003.11:g.10191516T>G , CM000665.1:g.10191516T>G	GRCh37
NC_000003.10:g.10166516T>G	NCBI36
NG_008212.3:g.13198T>G , LRG_322:g.13198T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*186T>G	ENSP00000512434.1:n.*186T>G
ENST00000696143.1:c.645T>G	ENSP00000512435.1:n.645T>G
ENST00000696153.1:c.620T>G	ENSP00000512444.1:p.Val207Gly
ENST00000256474.3:c.509T>G MANE Select	ENSP00000256474.3:p.Val170Gly
ENST00000256474.2:c.509T>G	ENSP00000256474.2:p.Val170Gly
ENST00000345392.2:c.386T>G	ENSP00000344757.2:p.Val129Gly
ENST00000477538.1:n.645T>G
NM_000551.3:c.509T>G , LRG_322t1:c.509T>G	NP_000542.1:p.Val170Gly
NM_198156.2:c.386T>G	NP_937799.1:p.Val129Gly
NM_001354723.1:c.*63T>G	NP_001341652.1:n.*63T>G
NM_000551.4:c.509T>G MANE Select	NP_000542.1:p.Val170Gly
NM_001354723.2:c.*63T>G	NP_001341652.1:n.*63T>G
NM_198156.3:c.386T>G	NP_937799.1:p.Val129Gly