Canonical Allele Identifier: CA512505064
Gene: CFAP410 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45752695A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44332812A>G , CM000683.2:g.44332812A>G GRCh38
NC_000021.8:g.45752695A>G , CM000683.1:g.45752695A>G GRCh37
NC_000021.7:g.44577123A>G NCBI36
NG_032952.1:g.11591T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000339818.9:c.373+221T>C MANE Select ENSP00000344566.4:n.373+221T>C
ENST00000325223.7:c.373+221T>C ENSP00000317302.7:n.373+221T>C
ENST00000339818.8:c.373+221T>C ENSP00000344566.4:n.373+221T>C
ENST00000397956.7:c.373+221T>C ENSP00000381047.3:n.373+221T>C
ENST00000462742.1:n.2544+221T>C
ENST00000478674.1:n.432+221T>C
ENST00000496321.5:n.489+221T>C
NM_001271440.1:c.373+221T>C NP_001258369.1:n.373+221T>C
NM_001271441.1:c.373+221T>C NP_001258370.1:n.373+221T>C
NM_001271442.1:c.250+221T>C NP_001258371.1:n.250+221T>C
NM_004928.2:c.373+221T>C NP_004919.1:n.373+221T>C
XM_006724051.2:c.448+221T>C XP_006724114.1:n.448+221T>C
XM_006724052.2:c.448+221T>C XP_006724115.1:n.448+221T>C
XM_006724053.2:c.49+221T>C XP_006724116.1:n.49+221T>C
XR_937571.1:n.576+221T>C
XM_006724051.3:c.448+221T>C XP_006724114.1:n.448+221T>C
XM_006724053.3:c.49+221T>C XP_006724116.1:n.49+221T>C
XM_017028470.1:c.577+221T>C XP_016883959.1:n.577+221T>C
XM_017028471.1:c.322+221T>C XP_016883960.1:n.322+221T>C
XM_017028472.1:c.49+221T>C XP_016883961.1:n.49+221T>C
XR_937571.2:n.583+221T>C
NM_004928.3:c.373+221T>C MANE Select NP_004919.1:n.373+221T>C
NM_001271440.2:c.373+221T>C NP_001258369.1:n.373+221T>C
NM_001271441.2:c.373+221T>C NP_001258370.1:n.373+221T>C