Canonical Allele Identifier: CA351756205

Gene: VHL

Linked Data

• dbSNP Id: rs1473638511
• gnomAD v2: 3-10191521-C-A
• MyVariant Identifiers: chr3:g.10191521C>A (hg19) ; chr3:g.10149837C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149837C>A , CM000665.2:g.10149837C>A	GRCh38
NC_000003.11:g.10191521C>A , CM000665.1:g.10191521C>A	GRCh37
NC_000003.10:g.10166521C>A	NCBI36
NG_008212.3:g.13203C>A , LRG_322:g.13203C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*191C>A	ENSP00000512434.1:n.*191C>A
ENST00000696143.1:c.650C>A	ENSP00000512435.1:n.650C>A
ENST00000696153.1:c.625C>A	ENSP00000512444.1:p.Pro209Thr
ENST00000256474.3:c.514C>A MANE Select	ENSP00000256474.3:p.Pro172Thr
ENST00000256474.2:c.514C>A	ENSP00000256474.2:p.Pro172Thr
ENST00000345392.2:c.391C>A	ENSP00000344757.2:p.Pro131Thr
ENST00000477538.1:n.650C>A
NM_000551.3:c.514C>A , LRG_322t1:c.514C>A	NP_000542.1:p.Pro172Thr
NM_198156.2:c.391C>A	NP_937799.1:p.Pro131Thr
NM_001354723.1:c.*68C>A	NP_001341652.1:n.*68C>A
NM_000551.4:c.514C>A MANE Select	NP_000542.1:p.Pro172Thr
NM_001354723.2:c.*68C>A	NP_001341652.1:n.*68C>A
NM_198156.3:c.391C>A	NP_937799.1:p.Pro131Thr