Canonical Allele Identifier: CA472333689
Gene: DEAF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.686876G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.686876G>C , CM000673.2:g.686876G>C GRCh38
NC_000011.9:g.686876G>C , CM000673.1:g.686876G>C GRCh37
NC_000011.8:g.676876G>C NCBI36
NG_034156.1:g.13879C>G
NG_034156.2:g.25208C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525626.6:n.671C>G
ENST00000528864.6:n.672C>G
ENST00000530813.2:c.*409C>G ENSP00000508507.1:n.*409C>G
ENST00000682936.1:n.546C>G
ENST00000683307.1:c.60C>G ENSP00000507198.1:p.Pro20=
ENST00000684249.1:n.974C>G
ENST00000685854.1:c.582C>G ENSP00000508801.1:p.Pro194=
ENST00000686001.1:c.582C>G ENSP00000508459.1:p.Pro194=
ENST00000687329.1:c.582C>G ENSP00000510598.1:p.Pro194=
ENST00000689835.1:c.582C>G ENSP00000510621.1:p.Pro194=
ENST00000690068.1:c.582C>G ENSP00000509089.1:p.Pro194=
ENST00000692634.1:c.582C>G ENSP00000508859.1:p.Pro194=
ENST00000693164.1:n.780C>G
ENST00000382409.4:c.786C>G MANE Select ENSP00000371846.3:p.Pro262=
ENST00000382409.3:c.786C>G ENSP00000371846.3:p.Pro262=
ENST00000527170.5:c.148C>G
NM_001293634.1:c.664+1035C>G NP_001280563.1:n.664+1035C>G
NM_021008.3:c.786C>G NP_066288.2:p.Pro262=
XM_011519842.1:c.786C>G XP_011518144.1:p.Pro262=
XM_011519843.1:c.786C>G XP_011518145.1:p.Pro262=
XR_428838.2:n.792C>G
XR_930843.1:n.792C>G
XM_011519842.3:c.786C>G XP_011518144.1:p.Pro262=
XM_024448325.1:c.786C>G XP_024304093.1:p.Pro262=
XM_024448326.1:c.786C>G XP_024304094.1:p.Pro262=
XM_024448327.1:c.786C>G XP_024304095.1:p.Pro262=
NM_001367390.1:c.60C>G NP_001354319.1:p.Pro20=
NM_021008.4:c.786C>G MANE Select NP_066288.2:p.Pro262=