Canonical Allele Identifier: CA3057222498
Community Standard Title: NM_000551.4(VHL):c.-70G=
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141778G= , CM000665.2:g.10141778G= GRCh38
NC_000003.11:g.10183462G= , CM000665.1:g.10183462G= GRCh37
NC_000003.10:g.10158462G= NCBI36
NG_008212.3:g.5144G= , LRG_322:g.5144G=

Transcript Alleles

HGVS Amino-acid Change
NM_000551.4:c.-70G= MANE Select NP_000542.1:n.-70G=
ENST00000256474.3:c.-70G= MANE Select ENSP00000256474.3:n.-70G=
NM_000551.3:c.-70G= , LRG_322t1:c.-70G= NP_000542.1:n.-70G=
NM_001354723.1:c.-70G= NP_001341652.1:n.-70G=
NM_001354723.2:c.-70G= NP_001341652.1:n.-70G=
NM_198156.2:c.-70G= NP_937799.1:n.-70G=
NM_198156.3:c.-70G= NP_937799.1:n.-70G=
ENST00000256474.2:c.-70G= ENSP00000256474.2:n.-70G=
ENST00000696153.1:c.-70G= ENSP00000512444.1:n.-70G=
XM_011534078.1:c.-70G= XP_011532380.1:n.-70G=