Canonical Allele Identifier: CA16619391

Gene: DEAF1

Linked Data

• ClinVar Variation Id: 422488
• ClinVar RCV Id: RCV000482280 ; RCV001171488
• dbSNP Id: rs1064795812
• gnomAD v3: 11-686946-T-C
• gnomAD v4: 11-686946-T-C
• MyVariant Identifiers: chr11:g.686946T>C (hg19) ; chr11:g.686946T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686946T>C , CM000673.2:g.686946T>C	GRCh38
NC_000011.9:g.686946T>C , CM000673.1:g.686946T>C	GRCh37
NC_000011.8:g.676946T>C	NCBI36
NG_034156.1:g.13809A>G
NG_034156.2:g.25138A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.601A>G
ENST00000528864.6:n.602A>G
ENST00000529717.6:c.*421A>G	ENSP00000432518.2:n.*421A>G
ENST00000530813.2:c.*339A>G	ENSP00000508507.1:n.*339A>G
ENST00000682936.1:n.476A>G
ENST00000683307.1:c.-11A>G	ENSP00000507198.1:n.-11A>G
ENST00000684249.1:n.904A>G
ENST00000685854.1:c.512A>G	ENSP00000508801.1:p.Glu171Gly
ENST00000686001.1:c.512A>G	ENSP00000508459.1:p.Glu171Gly
ENST00000687329.1:c.512A>G	ENSP00000510598.1:p.Glu171Gly
ENST00000689835.1:c.512A>G	ENSP00000510621.1:p.Glu171Gly
ENST00000690068.1:c.512A>G	ENSP00000509089.1:p.Glu171Gly
ENST00000692634.1:c.512A>G	ENSP00000508859.1:p.Glu171Gly
ENST00000693164.1:n.710A>G
ENST00000382409.4:c.716A>G MANE Select	ENSP00000371846.3:p.Glu239Gly
ENST00000382409.3:c.716A>G	ENSP00000371846.3:p.Glu239Gly
ENST00000525626.5:n.571A>G
ENST00000527170.5:c.78A>G
ENST00000529717.5:c.680A>G
NM_001293634.1:c.664+965A>G	NP_001280563.1:n.664+965A>G
NM_021008.3:c.716A>G	NP_066288.2:p.Glu239Gly
XM_011519842.1:c.716A>G	XP_011518144.1:p.Glu239Gly
XM_011519843.1:c.716A>G	XP_011518145.1:p.Glu239Gly
XR_428838.2:n.722A>G
XR_930843.1:n.722A>G
XM_011519842.3:c.716A>G	XP_011518144.1:p.Glu239Gly
XM_024448325.1:c.716A>G	XP_024304093.1:p.Glu239Gly
XM_024448326.1:c.716A>G	XP_024304094.1:p.Glu239Gly
XM_024448327.1:c.716A>G	XP_024304095.1:p.Glu239Gly
NM_001367390.1:c.-11A>G	NP_001354319.1:n.-11A>G
NM_021008.4:c.716A>G MANE Select	NP_066288.2:p.Glu239Gly