Canonical Allele Identifier: CA368080602
Gene: CFAP69 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.90309272A>C , CM000669.2:g.90309272A>C GRCh38
NC_000007.13:g.89938586A>C , CM000669.1:g.89938586A>C GRCh37
NC_000007.12:g.89776522A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001039706.3:c.2560A>C MANE Select NP_001034795.2:p.Ser854Arg
ENST00000389297.8:c.2560A>C MANE Select ENSP00000373948.4:p.Ser854Arg
NM_001039706.2:c.2560A>C NP_001034795.2:p.Ser854Arg
NM_001160138.1:c.2506A>C NP_001153610.1:p.Ser836Arg
NM_001160138.2:c.2506A>C NP_001153610.1:p.Ser836Arg
NM_001363438.1:c.2362A>C NP_001350367.1:p.Ser788Arg
ENST00000412839.5:c.245A>C
ENST00000445156.1:c.110-796A>C
ENST00000449577.5:c.1171A>C ENSP00000391571.1:p.Ser391Arg
ENST00000475031.5:n.6550A>C
ENST00000497910.5:c.2506A>C ENSP00000419549.1:p.Ser836Arg
XM_011516576.1:c.2560A>C XP_011514878.1:p.Ser854Arg
XM_011516577.1:c.2560A>C XP_011514879.1:p.Ser854Arg
XM_011516577.2:c.2560A>C XP_011514879.1:p.Ser854Arg
XM_011516578.1:c.2560A>C XP_011514880.1:p.Ser854Arg
XM_011516578.2:c.2560A>C XP_011514880.1:p.Ser854Arg
XM_017012624.1:c.2506A>C XP_016868113.1:p.Ser836Arg
XM_017012625.1:c.2551-796A>C XP_016868114.1:n.2551-796A>C
XM_017012626.1:c.2551-796A>C XP_016868115.1:n.2551-796A>C
XM_017012627.1:c.2422A>C XP_016868116.1:p.Ser808Arg
XM_017012628.1:c.2362A>C XP_016868117.1:p.Ser788Arg
XM_017012629.1:c.2341A>C XP_016868118.1:p.Ser781Arg
XM_017012631.1:c.2272A>C XP_016868120.1:p.Ser758Arg
XM_017012632.1:c.2353-796A>C XP_016868121.1:n.2353-796A>C
XM_017012633.2:c.2119A>C XP_016868122.1:p.Ser707Arg
XM_017012634.1:c.2119A>C XP_016868123.1:p.Ser707Arg
XM_017012635.2:c.2119A>C XP_016868124.1:p.Ser707Arg
XM_017012636.1:c.2119A>C XP_016868125.1:p.Ser707Arg
XM_017012637.1:c.2065A>C XP_016868126.1:p.Ser689Arg
XM_017012638.1:c.2065A>C XP_016868127.1:p.Ser689Arg
XM_017012639.1:c.1927A>C XP_016868128.1:p.Ser643Arg
XM_017012640.1:c.1669A>C XP_016868129.1:p.Ser557Arg
XR_242264.2:n.2567A>C
XR_927530.1:n.2790A>C
XR_927531.1:n.2790A>C
XR_927531.2:n.2790A>C
XR_927532.1:n.2710A>C
XR_927533.1:n.2714A>C