Canonical Allele Identifier: CA5786448

Gene: DEAF1

Linked Data

• ClinVar Variation Id: 1709471
• ClinVar RCV Id: RCV002289286
• dbSNP Id: rs554159675
• ExAC: 11:686985 C / T
• gnomAD v2: 11-686985-C-T
• gnomAD v3: 11-686985-C-T
• gnomAD v4: 11-686985-C-T
• MyVariant Identifiers: chr11:g.686985C>T (hg19) ; chr11:g.686985C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686985C>T , CM000673.2:g.686985C>T	GRCh38
NC_000011.9:g.686985C>T , CM000673.1:g.686985C>T	GRCh37
NC_000011.8:g.676985C>T	NCBI36
NG_034156.1:g.13770G>A
NG_034156.2:g.25099G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.562G>A
ENST00000528864.6:n.563G>A
ENST00000529717.6:c.*382G>A	ENSP00000432518.2:n.*382G>A
ENST00000530813.2:c.*300G>A	ENSP00000508507.1:n.*300G>A
ENST00000682936.1:n.437G>A
ENST00000683307.1:c.-50G>A	ENSP00000507198.1:n.-50G>A
ENST00000684249.1:n.865G>A
ENST00000685854.1:c.473G>A	ENSP00000508801.1:p.Arg158Gln
ENST00000686001.1:c.473G>A	ENSP00000508459.1:p.Arg158Gln
ENST00000687329.1:c.473G>A	ENSP00000510598.1:p.Arg158Gln
ENST00000689835.1:c.473G>A	ENSP00000510621.1:p.Arg158Gln
ENST00000690068.1:c.473G>A	ENSP00000509089.1:p.Arg158Gln
ENST00000692634.1:c.473G>A	ENSP00000508859.1:p.Arg158Gln
ENST00000693164.1:n.671G>A
ENST00000382409.4:c.677G>A MANE Select	ENSP00000371846.3:p.Arg226Gln
ENST00000382409.3:c.677G>A	ENSP00000371846.3:p.Arg226Gln
ENST00000525626.5:n.532G>A
ENST00000527170.5:c.39G>A
ENST00000528864.5:n.544G>A
ENST00000529717.5:c.641G>A
NM_001293634.1:c.664+926G>A	NP_001280563.1:n.664+926G>A
NM_021008.3:c.677G>A	NP_066288.2:p.Arg226Gln
XM_011519842.1:c.677G>A	XP_011518144.1:p.Arg226Gln
XM_011519843.1:c.677G>A	XP_011518145.1:p.Arg226Gln
XR_428838.2:n.683G>A
XR_930843.1:n.683G>A
XM_011519842.3:c.677G>A	XP_011518144.1:p.Arg226Gln
XM_024448325.1:c.677G>A	XP_024304093.1:p.Arg226Gln
XM_024448326.1:c.677G>A	XP_024304094.1:p.Arg226Gln
XM_024448327.1:c.677G>A	XP_024304095.1:p.Arg226Gln
NM_001367390.1:c.-50G>A	NP_001354319.1:n.-50G>A
NM_021008.4:c.677G>A MANE Select	NP_066288.2:p.Arg226Gln