Canonical Allele Identifier: CA432423771

Gene: VHL

Linked Data

• dbSNP Id: rs1696363804
• MyVariant Identifiers: chr3:g.10191589G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149905G>C , CM000665.2:g.10149905G>C	GRCh38
NC_000003.11:g.10191589G>C , CM000665.1:g.10191589G>C	GRCh37
NC_000003.10:g.10166589G>C	NCBI36
NG_008212.3:g.13271G>C , LRG_322:g.13271G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*259G>C	ENSP00000512434.1:n.*259G>C
ENST00000696143.1:c.718G>C	ENSP00000512435.1:n.718G>C
ENST00000696153.1:c.693G>C	ENSP00000512444.1:p.Val231=
ENST00000256474.3:c.582G>C MANE Select	ENSP00000256474.3:p.Val194=
ENST00000256474.2:c.582G>C	ENSP00000256474.2:p.Val194=
ENST00000345392.2:c.459G>C	ENSP00000344757.2:p.Val153=
ENST00000477538.1:n.718G>C
NM_000551.3:c.582G>C , LRG_322t1:c.582G>C	NP_000542.1:p.Val194=
NM_198156.2:c.459G>C	NP_937799.1:p.Val153=
NM_001354723.1:c.*136G>C	NP_001341652.1:n.*136G>C
NM_000551.4:c.582G>C MANE Select	NP_000542.1:p.Val194=
NM_001354723.2:c.*136G>C	NP_001341652.1:n.*136G>C
NM_198156.3:c.459G>C	NP_937799.1:p.Val153=