Canonical Allele Identifier: CA432423683

Gene: VHL

Linked Data

• dbSNP Id: rs2125130705
• MyVariant Identifiers: chr3:g.10191571G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149887G>C , CM000665.2:g.10149887G>C	GRCh38
NC_000003.11:g.10191571G>C , CM000665.1:g.10191571G>C	GRCh37
NC_000003.10:g.10166571G>C	NCBI36
NG_008212.3:g.13253G>C , LRG_322:g.13253G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*241G>C	ENSP00000512434.1:n.*241G>C
ENST00000696143.1:c.700G>C	ENSP00000512435.1:n.700G>C
ENST00000696153.1:c.675G>C	ENSP00000512444.1:p.Leu225=
ENST00000256474.3:c.564G>C MANE Select	ENSP00000256474.3:p.Leu188=
ENST00000256474.2:c.564G>C	ENSP00000256474.2:p.Leu188=
ENST00000345392.2:c.441G>C	ENSP00000344757.2:p.Leu147=
ENST00000477538.1:n.700G>C
NM_000551.3:c.564G>C , LRG_322t1:c.564G>C	NP_000542.1:p.Leu188=
NM_198156.2:c.441G>C	NP_937799.1:p.Leu147=
NM_001354723.1:c.*118G>C	NP_001341652.1:n.*118G>C
NM_000551.4:c.564G>C MANE Select	NP_000542.1:p.Leu188=
NM_001354723.2:c.*118G>C	NP_001341652.1:n.*118G>C
NM_198156.3:c.441G>C	NP_937799.1:p.Leu147=