Canonical Allele Identifier: CA156399

Gene: DEAF1

Linked Data

• ClinVar Variation Id: 133293
• ClinVar RCV Id: RCV000119806 ; RCV001310582
• dbSNP Id: rs587777408
• MyVariant Identifiers: chr11:g.686992G>A (hg19) ; chr11:g.686992G>A (hg38)
• PubMed: PMID:24726472

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686992G>A , CM000673.2:g.686992G>A	GRCh38
NC_000011.9:g.686992G>A , CM000673.1:g.686992G>A	GRCh37
NC_000011.8:g.676992G>A	NCBI36
NG_034156.1:g.13763C>T
NG_034156.2:g.25092C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.555C>T
ENST00000528864.6:n.556C>T
ENST00000529717.6:c.*375C>T	ENSP00000432518.2:n.*375C>T
ENST00000530813.2:c.*293C>T	ENSP00000508507.1:n.*293C>T
ENST00000682936.1:n.430C>T
ENST00000683307.1:c.-57C>T	ENSP00000507198.1:n.-57C>T
ENST00000684249.1:n.858C>T
ENST00000685854.1:c.466C>T	ENSP00000508801.1:p.Arg156Trp
ENST00000686001.1:c.466C>T	ENSP00000508459.1:p.Arg156Trp
ENST00000687329.1:c.466C>T	ENSP00000510598.1:p.Arg156Trp
ENST00000689835.1:c.466C>T	ENSP00000510621.1:p.Arg156Trp
ENST00000690068.1:c.466C>T	ENSP00000509089.1:p.Arg156Trp
ENST00000692634.1:c.466C>T	ENSP00000508859.1:p.Arg156Trp
ENST00000693164.1:n.664C>T
ENST00000382409.4:c.670C>T MANE Select	ENSP00000371846.3:p.Arg224Trp
ENST00000382409.3:c.670C>T	ENSP00000371846.3:p.Arg224Trp
ENST00000525626.5:n.525C>T
ENST00000527170.5:c.32C>T
ENST00000528864.5:n.537C>T
ENST00000529717.5:c.634C>T
NM_001293634.1:c.664+919C>T	NP_001280563.1:n.664+919C>T
NM_021008.3:c.670C>T	NP_066288.2:p.Arg224Trp
XM_011519842.1:c.670C>T	XP_011518144.1:p.Arg224Trp
XM_011519843.1:c.670C>T	XP_011518145.1:p.Arg224Trp
XR_428838.2:n.676C>T
XR_930843.1:n.676C>T
XM_011519842.3:c.670C>T	XP_011518144.1:p.Arg224Trp
XM_024448325.1:c.670C>T	XP_024304093.1:p.Arg224Trp
XM_024448326.1:c.670C>T	XP_024304094.1:p.Arg224Trp
XM_024448327.1:c.670C>T	XP_024304095.1:p.Arg224Trp
NM_001367390.1:c.-57C>T	NP_001354319.1:n.-57C>T
NM_021008.4:c.670C>T MANE Select	NP_066288.2:p.Arg224Trp