Canonical Allele Identifier: CA5786437
Gene: DEAF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1676378
ClinVar RCV Id: RCV002221760
dbSNP Id: rs778326610
gnomAD v2: 11-686881-G-A
gnomAD v4: 11-686881-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.686881G>A , CM000673.2:g.686881G>A GRCh38
NC_000011.9:g.686881G>A , CM000673.1:g.686881G>A GRCh37
NC_000011.8:g.676881G>A NCBI36
NG_034156.1:g.13874C>T
NG_034156.2:g.25203C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525626.6:n.666C>T
ENST00000528864.6:n.667C>T
ENST00000530813.2:c.*404C>T ENSP00000508507.1:n.*404C>T
ENST00000682936.1:n.541C>T
ENST00000683307.1:c.55C>T ENSP00000507198.1:p.Arg19Ter
ENST00000684249.1:n.969C>T
ENST00000685854.1:c.577C>T ENSP00000508801.1:p.Arg193Ter
ENST00000686001.1:c.577C>T ENSP00000508459.1:p.Arg193Ter
ENST00000687329.1:c.577C>T ENSP00000510598.1:p.Arg193Ter
ENST00000689835.1:c.577C>T ENSP00000510621.1:p.Arg193Ter
ENST00000690068.1:c.577C>T ENSP00000509089.1:p.Arg193Ter
ENST00000692634.1:c.577C>T ENSP00000508859.1:p.Arg193Ter
ENST00000693164.1:n.775C>T
ENST00000382409.4:c.781C>T MANE Select ENSP00000371846.3:p.Arg261Ter
ENST00000382409.3:c.781C>T ENSP00000371846.3:p.Arg261Ter
ENST00000527170.5:c.143C>T
NM_001293634.1:c.664+1030C>T NP_001280563.1:n.664+1030C>T
NM_021008.3:c.781C>T NP_066288.2:p.Arg261Ter
XM_011519842.1:c.781C>T XP_011518144.1:p.Arg261Ter
XM_011519843.1:c.781C>T XP_011518145.1:p.Arg261Ter
XR_428838.2:n.787C>T
XR_930843.1:n.787C>T
XM_011519842.3:c.781C>T XP_011518144.1:p.Arg261Ter
XM_024448325.1:c.781C>T XP_024304093.1:p.Arg261Ter
XM_024448326.1:c.781C>T XP_024304094.1:p.Arg261Ter
XM_024448327.1:c.781C>T XP_024304095.1:p.Arg261Ter
NM_001367390.1:c.55C>T NP_001354319.1:p.Arg19Ter
NM_021008.4:c.781C>T MANE Select NP_066288.2:p.Arg261Ter