Canonical Allele Identifier: CA5786248

Gene: DEAF1

Linked Data

• ClinVar Variation Id: 421884
• ClinVar RCV Id: RCV000482531
• dbSNP Id: rs762639219
• ExAC: 11:674732 G / A
• gnomAD v2: 11-674732-G-A
• gnomAD v3: 11-674732-G-A
• gnomAD v4: 11-674732-G-A
• COSMIC: COSM5839399 ; COSM5839400
• MyVariant Identifiers: chr11:g.674732G>A (hg19) ; chr11:g.674732G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.674732G>A , CM000673.2:g.674732G>A	GRCh38
NC_000011.9:g.674732G>A , CM000673.1:g.674732G>A	GRCh37
NC_000011.8:g.664732G>A	NCBI36
NG_034156.1:g.26023C>T
NG_034156.2:g.37352C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.1192C>T
ENST00000528864.6:n.1193C>T
ENST00000530813.2:c.*930C>T	ENSP00000508507.1:n.*930C>T
ENST00000682936.1:n.1067C>T
ENST00000683307.1:c.581C>T	ENSP00000507198.1:p.Ala194Val
ENST00000685854.1:c.1103C>T	ENSP00000508801.1:p.Ala368Val
ENST00000686001.1:c.1103C>T	ENSP00000508459.1:p.Ala368Val
ENST00000687329.1:c.1103C>T	ENSP00000510598.1:p.Ala368Val
ENST00000689835.1:c.1103C>T	ENSP00000510621.1:p.Ala368Val
ENST00000690068.1:c.974C>T	ENSP00000509089.1:p.Ala325Val
ENST00000692634.1:c.*52C>T	ENSP00000508859.1:n.*52C>T
ENST00000382409.4:c.1307C>T MANE Select	ENSP00000371846.3:p.Ala436Val
ENST00000382409.3:c.1307C>T	ENSP00000371846.3:p.Ala436Val
ENST00000525904.5:n.490C>T
ENST00000526790.1:n.138C>T
ENST00000527170.5:c.669C>T
ENST00000530813.1:n.382C>T
NM_001293634.1:c.1040C>T	NP_001280563.1:p.Ala347Val
NM_021008.3:c.1307C>T	NP_066288.2:p.Ala436Val
XM_011519842.1:c.1307C>T	XP_011518144.1:p.Ala436Val
XM_011519843.1:c.1307C>T	XP_011518145.1:p.Ala436Val
XR_428838.2:n.1313C>T
XR_930843.1:n.1313C>T
XM_011519842.3:c.1307C>T	XP_011518144.1:p.Ala436Val
XM_024448325.1:c.1307C>T	XP_024304093.1:p.Ala436Val
XM_024448326.1:c.1307C>T	XP_024304094.1:p.Ala436Val
XM_024448327.1:c.1307C>T	XP_024304095.1:p.Ala436Val
NM_001367390.1:c.581C>T	NP_001354319.1:p.Ala194Val
NM_021008.4:c.1307C>T MANE Select	NP_066288.2:p.Ala436Val