Canonical Allele Identifier: CA1345068712
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10144561A= , CM000665.2:g.10144561A= GRCh38
NC_000003.11:g.10186245A= , CM000665.1:g.10186245A= GRCh37
NC_000003.10:g.10161245A= NCBI36
NG_008212.3:g.7927A= , LRG_322:g.7927A=

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*17+1540A= ENSP00000512434.1:n.*17+1540A=
ENST00000696143.1:c.599+1540A= ENSP00000512435.1:n.599+1540A=
ENST00000696153.1:c.341-1953A= ENSP00000512444.1:n.341-1953A=
ENST00000256474.3:c.341-1953A= MANE Select ENSP00000256474.3:n.341-1953A=
ENST00000256474.2:c.341-1953A= ENSP00000256474.2:n.341-1953A=
ENST00000345392.2:c.340+2374A= ENSP00000344757.2:n.340+2374A=
ENST00000477538.1:n.476+1540A=
NM_000551.3:c.341-1953A= , LRG_322t1:c.341-1953A= NP_000542.1:n.341-1953A=
NM_198156.2:c.340+2374A= NP_937799.1:n.340+2374A=
XM_011534078.1:c.*17+1540A= XP_011532380.1:n.*17+1540A=
NM_001354723.1:c.*17+1540A= NP_001341652.1:n.*17+1540A=
NM_000551.4:c.341-1953A= MANE Select NP_000542.1:n.341-1953A=
NM_001354723.2:c.*17+1540A= NP_001341652.1:n.*17+1540A=
NM_198156.3:c.340+2374A= NP_937799.1:n.340+2374A=