Canonical Allele Identifier: CA156395
Gene: DEAF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133291
ClinVar RCV Id: RCV000119804
dbSNP Id: rs587777406
MyVariant Identifiers: chr11:g.686979A>C (hg19) chr11:g.686979A>C (hg38)
PubMed: PMID:21076407 PMID:24726472
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.686979A>C , CM000673.2:g.686979A>C GRCh38
NC_000011.9:g.686979A>C , CM000673.1:g.686979A>C GRCh37
NC_000011.8:g.676979A>C NCBI36
NG_034156.1:g.13776T>G
NG_034156.2:g.25105T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000525626.6:n.568T>G
ENST00000528864.6:n.569T>G
ENST00000529717.6:c.*388T>G ENSP00000432518.2:n.*388T>G
ENST00000530813.2:c.*306T>G ENSP00000508507.1:n.*306T>G
ENST00000682936.1:n.443T>G
ENST00000683307.1:c.-44T>G ENSP00000507198.1:n.-44T>G
ENST00000684249.1:n.871T>G
ENST00000685854.1:c.479T>G ENSP00000508801.1:p.Ile160Ser
ENST00000686001.1:c.479T>G ENSP00000508459.1:p.Ile160Ser
ENST00000687329.1:c.479T>G ENSP00000510598.1:p.Ile160Ser
ENST00000689835.1:c.479T>G ENSP00000510621.1:p.Ile160Ser
ENST00000690068.1:c.479T>G ENSP00000509089.1:p.Ile160Ser
ENST00000692634.1:c.479T>G ENSP00000508859.1:p.Ile160Ser
ENST00000693164.1:n.677T>G
ENST00000382409.4:c.683T>G MANE Select ENSP00000371846.3:p.Ile228Ser
ENST00000382409.3:c.683T>G ENSP00000371846.3:p.Ile228Ser
ENST00000525626.5:n.538T>G
ENST00000527170.5:c.45T>G
ENST00000528864.5:n.550T>G
ENST00000529717.5:c.647T>G
NM_001293634.1:c.664+932T>G NP_001280563.1:n.664+932T>G
NM_021008.3:c.683T>G NP_066288.2:p.Ile228Ser
XM_011519842.1:c.683T>G XP_011518144.1:p.Ile228Ser
XM_011519843.1:c.683T>G XP_011518145.1:p.Ile228Ser
XR_428838.2:n.689T>G
XR_930843.1:n.689T>G
XM_011519842.3:c.683T>G XP_011518144.1:p.Ile228Ser
XM_024448325.1:c.683T>G XP_024304093.1:p.Ile228Ser
XM_024448326.1:c.683T>G XP_024304094.1:p.Ile228Ser
XM_024448327.1:c.683T>G XP_024304095.1:p.Ile228Ser
NM_001367390.1:c.-44T>G NP_001354319.1:n.-44T>G
NM_021008.4:c.683T>G MANE Select NP_066288.2:p.Ile228Ser
Search 100 bp 5'
Search 100 bp 3'