Canonical Allele Identifier: CA4333858
Gene: CFAP69 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.90309274C>A , CM000669.2:g.90309274C>A GRCh38
NC_000007.13:g.89938588C>A , CM000669.1:g.89938588C>A GRCh37
NC_000007.12:g.89776524C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001039706.3:c.2562C>A MANE Select NP_001034795.2:p.Ser854Arg
ENST00000389297.8:c.2562C>A MANE Select ENSP00000373948.4:p.Ser854Arg
NM_001039706.2:c.2562C>A NP_001034795.2:p.Ser854Arg
NM_001160138.1:c.2508C>A NP_001153610.1:p.Ser836Arg
NM_001160138.2:c.2508C>A NP_001153610.1:p.Ser836Arg
NM_001363438.1:c.2364C>A NP_001350367.1:p.Ser788Arg
ENST00000412839.5:c.247C>A
ENST00000445156.1:c.110-794C>A
ENST00000449577.5:c.1173C>A ENSP00000391571.1:p.Ser391Arg
ENST00000475031.5:n.6552C>A
ENST00000497910.5:c.2508C>A ENSP00000419549.1:p.Ser836Arg
XM_011516576.1:c.2562C>A XP_011514878.1:p.Ser854Arg
XM_011516577.1:c.2562C>A XP_011514879.1:p.Ser854Arg
XM_011516577.2:c.2562C>A XP_011514879.1:p.Ser854Arg
XM_011516578.1:c.2562C>A XP_011514880.1:p.Ser854Arg
XM_011516578.2:c.2562C>A XP_011514880.1:p.Ser854Arg
XM_017012624.1:c.2508C>A XP_016868113.1:p.Ser836Arg
XM_017012625.1:c.2551-794C>A XP_016868114.1:n.2551-794C>A
XM_017012626.1:c.2551-794C>A XP_016868115.1:n.2551-794C>A
XM_017012627.1:c.2424C>A XP_016868116.1:p.Ser808Arg
XM_017012628.1:c.2364C>A XP_016868117.1:p.Ser788Arg
XM_017012629.1:c.2343C>A XP_016868118.1:p.Ser781Arg
XM_017012631.1:c.2274C>A XP_016868120.1:p.Ser758Arg
XM_017012632.1:c.2353-794C>A XP_016868121.1:n.2353-794C>A
XM_017012633.2:c.2121C>A XP_016868122.1:p.Ser707Arg
XM_017012634.1:c.2121C>A XP_016868123.1:p.Ser707Arg
XM_017012635.2:c.2121C>A XP_016868124.1:p.Ser707Arg
XM_017012636.1:c.2121C>A XP_016868125.1:p.Ser707Arg
XM_017012637.1:c.2067C>A XP_016868126.1:p.Ser689Arg
XM_017012638.1:c.2067C>A XP_016868127.1:p.Ser689Arg
XM_017012639.1:c.1929C>A XP_016868128.1:p.Ser643Arg
XM_017012640.1:c.1671C>A XP_016868129.1:p.Ser557Arg
XR_242264.2:n.2569C>A
XR_927530.1:n.2792C>A
XR_927531.1:n.2792C>A
XR_927531.2:n.2792C>A
XR_927532.1:n.2712C>A
XR_927533.1:n.2716C>A