Canonical Allele Identifier: CA472333970

Gene: DEAF1

Linked Data

• MyVariant Identifiers: chr11:g.686984C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686984C>G , CM000673.2:g.686984C>G	GRCh38
NC_000011.9:g.686984C>G , CM000673.1:g.686984C>G	GRCh37
NC_000011.8:g.676984C>G	NCBI36
NG_034156.1:g.13771G>C
NG_034156.2:g.25100G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.563G>C
ENST00000528864.6:n.564G>C
ENST00000529717.6:c.*383G>C	ENSP00000432518.2:n.*383G>C
ENST00000530813.2:c.*301G>C	ENSP00000508507.1:n.*301G>C
ENST00000682936.1:n.438G>C
ENST00000683307.1:c.-49G>C	ENSP00000507198.1:n.-49G>C
ENST00000684249.1:n.866G>C
ENST00000685854.1:c.474G>C	ENSP00000508801.1:p.Arg158=
ENST00000686001.1:c.474G>C	ENSP00000508459.1:p.Arg158=
ENST00000687329.1:c.474G>C	ENSP00000510598.1:p.Arg158=
ENST00000689835.1:c.474G>C	ENSP00000510621.1:p.Arg158=
ENST00000690068.1:c.474G>C	ENSP00000509089.1:p.Arg158=
ENST00000692634.1:c.474G>C	ENSP00000508859.1:p.Arg158=
ENST00000693164.1:n.672G>C
ENST00000382409.4:c.678G>C MANE Select	ENSP00000371846.3:p.Arg226=
ENST00000382409.3:c.678G>C	ENSP00000371846.3:p.Arg226=
ENST00000525626.5:n.533G>C
ENST00000527170.5:c.40G>C
ENST00000528864.5:n.545G>C
ENST00000529717.5:c.642G>C
NM_001293634.1:c.664+927G>C	NP_001280563.1:n.664+927G>C
NM_021008.3:c.678G>C	NP_066288.2:p.Arg226=
XM_011519842.1:c.678G>C	XP_011518144.1:p.Arg226=
XM_011519843.1:c.678G>C	XP_011518145.1:p.Arg226=
XR_428838.2:n.684G>C
XR_930843.1:n.684G>C
XM_011519842.3:c.678G>C	XP_011518144.1:p.Arg226=
XM_024448325.1:c.678G>C	XP_024304093.1:p.Arg226=
XM_024448326.1:c.678G>C	XP_024304094.1:p.Arg226=
XM_024448327.1:c.678G>C	XP_024304095.1:p.Arg226=
NM_001367390.1:c.-49G>C	NP_001354319.1:n.-49G>C
NM_021008.4:c.678G>C MANE Select	NP_066288.2:p.Arg226=