Canonical Allele Identifier: CA378931829

Gene: DEAF1

Linked Data

• ClinVar Variation Id: 1308929
• ClinVar RCV Id: RCV001754817
• dbSNP Id: rs2133402143
• MyVariant Identifiers: chr11:g.686872G>C (hg19) ; chr11:g.686872G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686872G>C , CM000673.2:g.686872G>C	GRCh38
NC_000011.9:g.686872G>C , CM000673.1:g.686872G>C	GRCh37
NC_000011.8:g.676872G>C	NCBI36
NG_034156.1:g.13883C>G
NG_034156.2:g.25212C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.675C>G
ENST00000528864.6:n.676C>G
ENST00000530813.2:c.*413C>G	ENSP00000508507.1:n.*413C>G
ENST00000682936.1:n.550C>G
ENST00000683307.1:c.64C>G	ENSP00000507198.1:p.Gln22Glu
ENST00000684249.1:n.978C>G
ENST00000685854.1:c.586C>G	ENSP00000508801.1:p.Gln196Glu
ENST00000686001.1:c.586C>G	ENSP00000508459.1:p.Gln196Glu
ENST00000687329.1:c.586C>G	ENSP00000510598.1:p.Gln196Glu
ENST00000689835.1:c.586C>G	ENSP00000510621.1:p.Gln196Glu
ENST00000690068.1:c.586C>G	ENSP00000509089.1:p.Gln196Glu
ENST00000692634.1:c.586C>G	ENSP00000508859.1:p.Gln196Glu
ENST00000693164.1:n.784C>G
ENST00000382409.4:c.790C>G MANE Select	ENSP00000371846.3:p.Gln264Glu
ENST00000382409.3:c.790C>G	ENSP00000371846.3:p.Gln264Glu
ENST00000527170.5:c.152C>G
NM_001293634.1:c.664+1039C>G	NP_001280563.1:n.664+1039C>G
NM_021008.3:c.790C>G	NP_066288.2:p.Gln264Glu
XM_011519842.1:c.790C>G	XP_011518144.1:p.Gln264Glu
XM_011519843.1:c.790C>G	XP_011518145.1:p.Gln264Glu
XR_428838.2:n.796C>G
XR_930843.1:n.796C>G
XM_011519842.3:c.790C>G	XP_011518144.1:p.Gln264Glu
XM_024448325.1:c.790C>G	XP_024304093.1:p.Gln264Glu
XM_024448326.1:c.790C>G	XP_024304094.1:p.Gln264Glu
XM_024448327.1:c.790C>G	XP_024304095.1:p.Gln264Glu
NM_001367390.1:c.64C>G	NP_001354319.1:p.Gln22Glu
NM_021008.4:c.790C>G MANE Select	NP_066288.2:p.Gln264Glu