Canonical Allele Identifier: CA432423849

Gene: VHL

Linked Data

• dbSNP Id: rs2125130788
• MyVariant Identifiers: chr3:g.10191607G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149923G>C , CM000665.2:g.10149923G>C	GRCh38
NC_000003.11:g.10191607G>C , CM000665.1:g.10191607G>C	GRCh37
NC_000003.10:g.10166607G>C	NCBI36
NG_008212.3:g.13289G>C , LRG_322:g.13289G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*277G>C	ENSP00000512434.1:n.*277G>C
ENST00000696143.1:c.736G>C	ENSP00000512435.1:n.736G>C
ENST00000696153.1:c.711G>C	ENSP00000512444.1:p.Arg237=
ENST00000256474.3:c.600G>C MANE Select	ENSP00000256474.3:p.Arg200=
ENST00000256474.2:c.600G>C	ENSP00000256474.2:p.Arg200=
ENST00000345392.2:c.477G>C	ENSP00000344757.2:p.Arg159=
ENST00000477538.1:n.736G>C
NM_000551.3:c.600G>C , LRG_322t1:c.600G>C	NP_000542.1:p.Arg200=
NM_198156.2:c.477G>C	NP_937799.1:p.Arg159=
NM_001354723.1:c.*154G>C	NP_001341652.1:n.*154G>C
NM_000551.4:c.600G>C MANE Select	NP_000542.1:p.Arg200=
NM_001354723.2:c.*154G>C	NP_001341652.1:n.*154G>C
NM_198156.3:c.477G>C	NP_937799.1:p.Arg159=