Canonical Allele Identifier: CA16619389

Gene: DEAF1

Linked Data

• ClinVar Variation Id: 423408
• ClinVar RCV Id: RCV000485882
• dbSNP Id: rs1064796407
• MyVariant Identifiers: chr11:g.686895A>T (hg19) ; chr11:g.686895A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686895A>T , CM000673.2:g.686895A>T	GRCh38
NC_000011.9:g.686895A>T , CM000673.1:g.686895A>T	GRCh37
NC_000011.8:g.676895A>T	NCBI36
NG_034156.1:g.13860T>A
NG_034156.2:g.25189T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.652T>A
ENST00000528864.6:n.653T>A
ENST00000530813.2:c.*390T>A	ENSP00000508507.1:n.*390T>A
ENST00000682936.1:n.527T>A
ENST00000683307.1:c.41T>A	ENSP00000507198.1:p.Ile14Asn
ENST00000684249.1:n.955T>A
ENST00000685854.1:c.563T>A	ENSP00000508801.1:p.Ile188Asn
ENST00000686001.1:c.563T>A	ENSP00000508459.1:p.Ile188Asn
ENST00000687329.1:c.563T>A	ENSP00000510598.1:p.Ile188Asn
ENST00000689835.1:c.563T>A	ENSP00000510621.1:p.Ile188Asn
ENST00000690068.1:c.563T>A	ENSP00000509089.1:p.Ile188Asn
ENST00000692634.1:c.563T>A	ENSP00000508859.1:p.Ile188Asn
ENST00000693164.1:n.761T>A
ENST00000382409.4:c.767T>A MANE Select	ENSP00000371846.3:p.Ile256Asn
ENST00000382409.3:c.767T>A	ENSP00000371846.3:p.Ile256Asn
ENST00000527170.5:c.129T>A
NM_001293634.1:c.664+1016T>A	NP_001280563.1:n.664+1016T>A
NM_021008.3:c.767T>A	NP_066288.2:p.Ile256Asn
XM_011519842.1:c.767T>A	XP_011518144.1:p.Ile256Asn
XM_011519843.1:c.767T>A	XP_011518145.1:p.Ile256Asn
XR_428838.2:n.773T>A
XR_930843.1:n.773T>A
XM_011519842.3:c.767T>A	XP_011518144.1:p.Ile256Asn
XM_024448325.1:c.767T>A	XP_024304093.1:p.Ile256Asn
XM_024448326.1:c.767T>A	XP_024304094.1:p.Ile256Asn
XM_024448327.1:c.767T>A	XP_024304095.1:p.Ile256Asn
NM_001367390.1:c.41T>A	NP_001354319.1:p.Ile14Asn
NM_021008.4:c.767T>A MANE Select	NP_066288.2:p.Ile256Asn