Canonical Allele Identifier: CA432423462

Gene: VHL

Linked Data

• gnomAD v4: 3-10149852-A-C
• MyVariant Identifiers: chr3:g.10191536A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149852A>C , CM000665.2:g.10149852A>C	GRCh38
NC_000003.11:g.10191536A>C , CM000665.1:g.10191536A>C	GRCh37
NC_000003.10:g.10166536A>C	NCBI36
NG_008212.3:g.13218A>C , LRG_322:g.13218A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*206A>C	ENSP00000512434.1:n.*206A>C
ENST00000696143.1:c.665A>C	ENSP00000512435.1:n.665A>C
ENST00000696153.1:c.640A>C	ENSP00000512444.1:p.Arg214=
ENST00000256474.3:c.529A>C MANE Select	ENSP00000256474.3:p.Arg177=
ENST00000256474.2:c.529A>C	ENSP00000256474.2:p.Arg177=
ENST00000345392.2:c.406A>C	ENSP00000344757.2:p.Arg136=
ENST00000477538.1:n.665A>C
NM_000551.3:c.529A>C , LRG_322t1:c.529A>C	NP_000542.1:p.Arg177=
NM_198156.2:c.406A>C	NP_937799.1:p.Arg136=
NM_001354723.1:c.*83A>C	NP_001341652.1:n.*83A>C
NM_000551.4:c.529A>C MANE Select	NP_000542.1:p.Arg177=
NM_001354723.2:c.*83A>C	NP_001341652.1:n.*83A>C
NM_198156.3:c.406A>C	NP_937799.1:p.Arg136=