Canonical Allele Identifier: CA378933410

Gene: DEAF1

Linked Data

• ClinVar Variation Id: 1098350
• ClinVar RCV Id: RCV001420245
• dbSNP Id: rs1057519565
• COSMIC: COSM429752 ; COSM5831860
• MyVariant Identifiers: chr11:g.687941C>A (hg19) ; chr11:g.687941C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.687941C>A , CM000673.2:g.687941C>A	GRCh38
NC_000011.9:g.687941C>A , CM000673.1:g.687941C>A	GRCh37
NC_000011.8:g.677941C>A	NCBI36
NG_034156.1:g.12814G>T
NG_034156.2:g.24143G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525626.6:n.519G>T
ENST00000528864.6:n.520G>T
ENST00000529717.6:c.*339G>T	ENSP00000432518.2:n.*339G>T
ENST00000530813.2:c.*257G>T	ENSP00000508507.1:n.*257G>T
ENST00000682936.1:n.394G>T
ENST00000683307.1:c.-93G>T	ENSP00000507198.1:n.-93G>T
ENST00000684249.1:n.822G>T
ENST00000685854.1:c.430G>T	ENSP00000508801.1:p.Gly144Cys
ENST00000686001.1:c.430G>T	ENSP00000508459.1:p.Gly144Cys
ENST00000687329.1:c.430G>T	ENSP00000510598.1:p.Gly144Cys
ENST00000689835.1:c.430G>T	ENSP00000510621.1:p.Gly144Cys
ENST00000690068.1:c.430G>T	ENSP00000509089.1:p.Gly144Cys
ENST00000692634.1:c.430G>T	ENSP00000508859.1:p.Gly144Cys
ENST00000693164.1:n.628G>T
ENST00000382409.4:c.634G>T MANE Select	ENSP00000371846.3:p.Gly212Cys
ENST00000382409.3:c.634G>T	ENSP00000371846.3:p.Gly212Cys
ENST00000524786.1:n.446G>T
ENST00000525626.5:n.489G>T
ENST00000528864.5:n.501G>T
ENST00000529717.5:c.598G>T
NM_001293634.1:c.634G>T	NP_001280563.1:p.Gly212Cys
NM_021008.3:c.634G>T	NP_066288.2:p.Gly212Cys
XM_011519842.1:c.634G>T	XP_011518144.1:p.Gly212Cys
XM_011519843.1:c.634G>T	XP_011518145.1:p.Gly212Cys
XR_428838.2:n.640G>T
XR_930843.1:n.640G>T
XM_011519842.3:c.634G>T	XP_011518144.1:p.Gly212Cys
XM_024448325.1:c.634G>T	XP_024304093.1:p.Gly212Cys
XM_024448326.1:c.634G>T	XP_024304094.1:p.Gly212Cys
XM_024448327.1:c.634G>T	XP_024304095.1:p.Gly212Cys
NM_001367390.1:c.-93G>T	NP_001354319.1:n.-93G>T
NM_021008.4:c.634G>T MANE Select	NP_066288.2:p.Gly212Cys