Canonical Allele Identifier: CA512670870
Gene: CFAP410 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45752959G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44333076G>C , CM000683.2:g.44333076G>C GRCh38
NC_000021.8:g.45752959G>C , CM000683.1:g.45752959G>C GRCh37
NC_000021.7:g.44577387G>C NCBI36
NG_032952.1:g.11327C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000339818.9:c.330C>G MANE Select ENSP00000344566.4:p.Thr110=
ENST00000325223.7:c.330C>G ENSP00000317302.7:p.Thr110=
ENST00000339818.8:c.330C>G ENSP00000344566.4:p.Thr110=
ENST00000397956.7:c.330C>G ENSP00000381047.3:p.Thr110=
ENST00000462742.1:n.2501C>G
ENST00000478674.1:n.389C>G
ENST00000496321.5:n.446C>G
NM_001271440.1:c.330C>G NP_001258369.1:p.Thr110=
NM_001271441.1:c.330C>G NP_001258370.1:p.Thr110=
NM_001271442.1:c.207C>G NP_001258371.1:p.Thr69=
NM_004928.2:c.330C>G NP_004919.1:p.Thr110=
XM_006724051.2:c.405C>G XP_006724114.1:p.Thr135=
XM_006724052.2:c.405C>G XP_006724115.1:p.Thr135=
XM_006724053.2:c.6C>G XP_006724116.1:p.Thr2=
XR_937571.1:n.533C>G
XM_006724051.3:c.405C>G XP_006724114.1:p.Thr135=
XM_006724053.3:c.6C>G XP_006724116.1:p.Thr2=
XM_017028470.1:c.534C>G XP_016883959.1:p.Thr178=
XM_017028471.1:c.279C>G XP_016883960.1:p.Thr93=
XM_017028472.1:c.6C>G XP_016883961.1:p.Thr2=
XR_937571.2:n.540C>G
NM_004928.3:c.330C>G MANE Select NP_004919.1:p.Thr110=
NM_001271440.2:c.330C>G NP_001258369.1:p.Thr110=
NM_001271441.2:c.330C>G NP_001258370.1:p.Thr110=