Canonical Allele Identifier: CA5786441

Gene: DEAF1

Linked Data

• ClinVar Variation Id: 447242
• ClinVar RCV Id: RCV000516722 ; RCV000877979 ; RCV002490881 ; RCV003925538
• dbSNP Id: rs117691319
• ExAC: 11:686888 G / A
• gnomAD v2: 11-686888-G-A
• gnomAD v3: 11-686888-G-A
• gnomAD v4: 11-686888-G-A
• MyVariant Identifiers: chr11:g.686888G>A (hg19) ; chr11:g.686888G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686888G>A , CM000673.2:g.686888G>A	GRCh38
NC_000011.9:g.686888G>A , CM000673.1:g.686888G>A	GRCh37
NC_000011.8:g.676888G>A	NCBI36
NG_034156.1:g.13867C>T
NG_034156.2:g.25196C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525626.6:n.659C>T
ENST00000528864.6:n.660C>T
ENST00000530813.2:c.*397C>T	ENSP00000508507.1:n.*397C>T
ENST00000682936.1:n.534C>T
ENST00000683307.1:c.48C>T	ENSP00000507198.1:p.Tyr16=
ENST00000684249.1:n.962C>T
ENST00000685854.1:c.570C>T	ENSP00000508801.1:p.Tyr190=
ENST00000686001.1:c.570C>T	ENSP00000508459.1:p.Tyr190=
ENST00000687329.1:c.570C>T	ENSP00000510598.1:p.Tyr190=
ENST00000689835.1:c.570C>T	ENSP00000510621.1:p.Tyr190=
ENST00000690068.1:c.570C>T	ENSP00000509089.1:p.Tyr190=
ENST00000692634.1:c.570C>T	ENSP00000508859.1:p.Tyr190=
ENST00000693164.1:n.768C>T
ENST00000382409.4:c.774C>T MANE Select	ENSP00000371846.3:p.Tyr258=
ENST00000382409.3:c.774C>T	ENSP00000371846.3:p.Tyr258=
ENST00000527170.5:c.136C>T
NM_001293634.1:c.664+1023C>T	NP_001280563.1:n.664+1023C>T
NM_021008.3:c.774C>T	NP_066288.2:p.Tyr258=
XM_011519842.1:c.774C>T	XP_011518144.1:p.Tyr258=
XM_011519843.1:c.774C>T	XP_011518145.1:p.Tyr258=
XR_428838.2:n.780C>T
XR_930843.1:n.780C>T
XM_011519842.3:c.774C>T	XP_011518144.1:p.Tyr258=
XM_024448325.1:c.774C>T	XP_024304093.1:p.Tyr258=
XM_024448326.1:c.774C>T	XP_024304094.1:p.Tyr258=
XM_024448327.1:c.774C>T	XP_024304095.1:p.Tyr258=
NM_001367390.1:c.48C>T	NP_001354319.1:p.Tyr16=
NM_021008.4:c.774C>T MANE Select	NP_066288.2:p.Tyr258=