Canonical Allele Identifier: CA16621934
Gene: VHL HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.10188319A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146635A>C , CM000665.2:g.10146635A>C GRCh38
NC_000003.11:g.10188319A>C , CM000665.1:g.10188319A>C GRCh37
NC_000003.10:g.10163319A>C NCBI36
NG_008212.3:g.10001A>C , LRG_322:g.10001A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*139A>C ENSP00000512434.1:n.*139A>C
ENST00000696143.1:c.600-3152A>C ENSP00000512435.1:n.600-3152A>C
ENST00000696153.1:c.462A>C ENSP00000512444.1:p.Pro154=
ENST00000256474.3:c.462A>C MANE Select ENSP00000256474.3:p.Pro154=
ENST00000256474.2:c.462A>C ENSP00000256474.2:p.Pro154=
ENST00000345392.2:c.341-3152A>C ENSP00000344757.2:n.341-3152A>C
ENST00000477538.1:n.598A>C
NM_000551.3:c.462A>C , LRG_322t1:c.462A>C NP_000542.1:p.Pro154=
NM_198156.2:c.341-3152A>C NP_937799.1:n.341-3152A>C
NM_001354723.1:c.*18-3152A>C NP_001341652.1:n.*18-3152A>C
NM_000551.4:c.462A>C MANE Select NP_000542.1:p.Pro154=
NM_001354723.2:c.*18-3152A>C NP_001341652.1:n.*18-3152A>C
NM_198156.3:c.341-3152A>C NP_937799.1:n.341-3152A>C