Canonical Allele Identifier: CA10053760
Gene: CFAP410 HGNC NCBI

Linked Data

ClinVar Variation Id: 1016881
ClinVar RCV Id: RCV001315952
dbSNP Id: rs377552361

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44333189G>A , CM000683.2:g.44333189G>A GRCh38
NC_000021.8:g.45753072G>A , CM000683.1:g.45753072G>A GRCh37
NC_000021.7:g.44577500G>A NCBI36
NG_032952.1:g.11214C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000339818.9:c.217C>T MANE Select ENSP00000344566.4:p.Arg73Cys
ENST00000325223.7:c.217C>T ENSP00000317302.7:p.Arg73Cys
ENST00000339818.8:c.217C>T ENSP00000344566.4:p.Arg73Cys
ENST00000397956.7:c.217C>T ENSP00000381047.3:p.Arg73Cys
ENST00000462742.1:n.2388C>T
ENST00000478674.1:n.276C>T
ENST00000496321.5:n.333C>T
NM_001271440.1:c.217C>T NP_001258369.1:p.Arg73Cys
NM_001271441.1:c.217C>T NP_001258370.1:p.Arg73Cys
NM_001271442.1:c.94C>T NP_001258371.1:p.Arg32Cys
NM_004928.2:c.217C>T NP_004919.1:p.Arg73Cys
XM_006724051.2:c.292C>T XP_006724114.1:p.Arg98Cys
XM_006724052.2:c.292C>T XP_006724115.1:p.Arg98Cys
XM_006724053.2:c.-108C>T XP_006724116.1:n.-108C>T
XR_937571.1:n.420C>T
XM_006724051.3:c.292C>T XP_006724114.1:p.Arg98Cys
XM_006724053.3:c.-108C>T XP_006724116.1:n.-108C>T
XM_017028470.1:c.421C>T XP_016883959.1:p.Arg141Cys
XM_017028471.1:c.166C>T XP_016883960.1:p.Arg56Cys
XM_017028472.1:c.-108C>T XP_016883961.1:n.-108C>T
XR_937571.2:n.427C>T
NM_004928.3:c.217C>T MANE Select NP_004919.1:p.Arg73Cys
NM_001271440.2:c.217C>T NP_001258369.1:p.Arg73Cys
NM_001271441.2:c.217C>T NP_001258370.1:p.Arg73Cys