Canonical Allele Identifier: CA432423555

Gene: VHL

Linked Data

• dbSNP Id: rs2125130650
• MyVariant Identifiers: chr3:g.10191550C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149866C>A , CM000665.2:g.10149866C>A	GRCh38
NC_000003.11:g.10191550C>A , CM000665.1:g.10191550C>A	GRCh37
NC_000003.10:g.10166550C>A	NCBI36
NG_008212.3:g.13232C>A , LRG_322:g.13232C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*220C>A	ENSP00000512434.1:n.*220C>A
ENST00000696143.1:c.679C>A	ENSP00000512435.1:n.679C>A
ENST00000696153.1:c.654C>A	ENSP00000512444.1:p.Val218=
ENST00000256474.3:c.543C>A MANE Select	ENSP00000256474.3:p.Val181=
ENST00000256474.2:c.543C>A	ENSP00000256474.2:p.Val181=
ENST00000345392.2:c.420C>A	ENSP00000344757.2:p.Val140=
ENST00000477538.1:n.679C>A
NM_000551.3:c.543C>A , LRG_322t1:c.543C>A	NP_000542.1:p.Val181=
NM_198156.2:c.420C>A	NP_937799.1:p.Val140=
NM_001354723.1:c.*97C>A	NP_001341652.1:n.*97C>A
NM_000551.4:c.543C>A MANE Select	NP_000542.1:p.Val181=
NM_001354723.2:c.*97C>A	NP_001341652.1:n.*97C>A
NM_198156.3:c.420C>A	NP_937799.1:p.Val140=