Canonical Allele Identifier: CA596796908

Gene: DEAF1

Linked Data

• ClinVar Variation Id: 2186760
• ClinVar RCV Id: RCV002606885
• dbSNP Id: rs1310245486
• gnomAD v2: 11-687004-G-A
• gnomAD v3: 11-687004-G-A
• gnomAD v4: 11-687004-G-A
• MyVariant Identifiers: chr11:g.687004G>A (hg19) ; chr11:g.687004G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.687004G>A , CM000673.2:g.687004G>A	GRCh38
NC_000011.9:g.687004G>A , CM000673.1:g.687004G>A	GRCh37
NC_000011.8:g.677004G>A	NCBI36
NG_034156.1:g.13751C>T
NG_034156.2:g.25080C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.550-7C>T
ENST00000528864.6:n.551-7C>T
ENST00000529717.6:c.*370-7C>T	ENSP00000432518.2:n.*370-7C>T
ENST00000530813.2:c.*288-7C>T	ENSP00000508507.1:n.*288-7C>T
ENST00000682936.1:n.425-7C>T
ENST00000683307.1:c.-62-7C>T	ENSP00000507198.1:n.-62-7C>T
ENST00000684249.1:n.853-7C>T
ENST00000685854.1:c.461-7C>T	ENSP00000508801.1:n.461-7C>T
ENST00000686001.1:c.461-7C>T	ENSP00000508459.1:n.461-7C>T
ENST00000687329.1:c.461-7C>T	ENSP00000510598.1:n.461-7C>T
ENST00000689835.1:c.461-7C>T	ENSP00000510621.1:n.461-7C>T
ENST00000690068.1:c.461-7C>T	ENSP00000509089.1:n.461-7C>T
ENST00000692634.1:c.461-7C>T	ENSP00000508859.1:n.461-7C>T
ENST00000693164.1:n.659-7C>T
ENST00000382409.4:c.665-7C>T MANE Select	ENSP00000371846.3:n.665-7C>T
ENST00000382409.3:c.665-7C>T	ENSP00000371846.3:n.665-7C>T
ENST00000525626.5:n.520-7C>T
ENST00000527170.5:c.27-7C>T
ENST00000528864.5:n.532-7C>T
ENST00000529717.5:c.629-7C>T
NM_001293634.1:c.664+907C>T	NP_001280563.1:n.664+907C>T
NM_021008.3:c.665-7C>T	NP_066288.2:n.665-7C>T
XM_011519842.1:c.665-7C>T	XP_011518144.1:n.665-7C>T
XM_011519843.1:c.665-7C>T	XP_011518145.1:n.665-7C>T
XR_428838.2:n.671-7C>T
XR_930843.1:n.671-7C>T
XM_011519842.3:c.665-7C>T	XP_011518144.1:n.665-7C>T
XM_024448325.1:c.665-7C>T	XP_024304093.1:n.665-7C>T
XM_024448326.1:c.665-7C>T	XP_024304094.1:n.665-7C>T
XM_024448327.1:c.665-7C>T	XP_024304095.1:n.665-7C>T
NM_001367390.1:c.-62-7C>T	NP_001354319.1:n.-62-7C>T
NM_021008.4:c.665-7C>T MANE Select	NP_066288.2:n.665-7C>T