Canonical Allele Identifier: CA432423578

Gene: VHL

Linked Data

• dbSNP Id: rs1224916824
• gnomAD v3: 3-10149869-G-A
• gnomAD v4: 3-10149869-G-A
• COSMIC: COSM18364
• MyVariant Identifiers: chr3:g.10191553G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149869G>A , CM000665.2:g.10149869G>A	GRCh38
NC_000003.11:g.10191553G>A , CM000665.1:g.10191553G>A	GRCh37
NC_000003.10:g.10166553G>A	NCBI36
NG_008212.3:g.13235G>A , LRG_322:g.13235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*223G>A	ENSP00000512434.1:n.*223G>A
ENST00000696143.1:c.682G>A	ENSP00000512435.1:n.682G>A
ENST00000696153.1:c.657G>A	ENSP00000512444.1:p.Arg219=
ENST00000256474.3:c.546G>A MANE Select	ENSP00000256474.3:p.Arg182=
ENST00000256474.2:c.546G>A	ENSP00000256474.2:p.Arg182=
ENST00000345392.2:c.423G>A	ENSP00000344757.2:p.Arg141=
ENST00000477538.1:n.682G>A
NM_000551.3:c.546G>A , LRG_322t1:c.546G>A	NP_000542.1:p.Arg182=
NM_198156.2:c.423G>A	NP_937799.1:p.Arg141=
NM_001354723.1:c.*100G>A	NP_001341652.1:n.*100G>A
NM_000551.4:c.546G>A MANE Select	NP_000542.1:p.Arg182=
NM_001354723.2:c.*100G>A	NP_001341652.1:n.*100G>A
NM_198156.3:c.423G>A	NP_937799.1:p.Arg141=