Canonical Allele Identifier: CA378932296

Gene: DEAF1

Linked Data

• ClinVar Variation Id: 437396
• ClinVar RCV Id: RCV000515532
• dbSNP Id: rs1554944271
• MyVariant Identifiers: chr11:g.686925C>G (hg19) ; chr11:g.686925C>G (hg38)
• PubMed: PMID:28940898

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686925C>G , CM000673.2:g.686925C>G	GRCh38
NC_000011.9:g.686925C>G , CM000673.1:g.686925C>G	GRCh37
NC_000011.8:g.676925C>G	NCBI36
NG_034156.1:g.13830G>C
NG_034156.2:g.25159G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.622G>C
ENST00000528864.6:n.623G>C
ENST00000529717.6:c.*442G>C	ENSP00000432518.2:n.*442G>C
ENST00000530813.2:c.*360G>C	ENSP00000508507.1:n.*360G>C
ENST00000682936.1:n.497G>C
ENST00000683307.1:c.11G>C	ENSP00000507198.1:p.Arg4Thr
ENST00000684249.1:n.925G>C
ENST00000685854.1:c.533G>C	ENSP00000508801.1:p.Arg178Thr
ENST00000686001.1:c.533G>C	ENSP00000508459.1:p.Arg178Thr
ENST00000687329.1:c.533G>C	ENSP00000510598.1:p.Arg178Thr
ENST00000689835.1:c.533G>C	ENSP00000510621.1:p.Arg178Thr
ENST00000690068.1:c.533G>C	ENSP00000509089.1:p.Arg178Thr
ENST00000692634.1:c.533G>C	ENSP00000508859.1:p.Arg178Thr
ENST00000693164.1:n.731G>C
ENST00000382409.4:c.737G>C MANE Select	ENSP00000371846.3:p.Arg246Thr
ENST00000382409.3:c.737G>C	ENSP00000371846.3:p.Arg246Thr
ENST00000527170.5:c.99G>C
ENST00000529717.5:c.701G>C
NM_001293634.1:c.664+986G>C	NP_001280563.1:n.664+986G>C
NM_021008.3:c.737G>C	NP_066288.2:p.Arg246Thr
XM_011519842.1:c.737G>C	XP_011518144.1:p.Arg246Thr
XM_011519843.1:c.737G>C	XP_011518145.1:p.Arg246Thr
XR_428838.2:n.743G>C
XR_930843.1:n.743G>C
XM_011519842.3:c.737G>C	XP_011518144.1:p.Arg246Thr
XM_024448325.1:c.737G>C	XP_024304093.1:p.Arg246Thr
XM_024448326.1:c.737G>C	XP_024304094.1:p.Arg246Thr
XM_024448327.1:c.737G>C	XP_024304095.1:p.Arg246Thr
NM_001367390.1:c.11G>C	NP_001354319.1:p.Arg4Thr
NM_021008.4:c.737G>C MANE Select	NP_066288.2:p.Arg246Thr