Canonical Allele Identifier: CA512670589
Gene: CFAP410 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45752757A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44332874A>C , CM000683.2:g.44332874A>C GRCh38
NC_000021.8:g.45752757A>C , CM000683.1:g.45752757A>C GRCh37
NC_000021.7:g.44577185A>C NCBI36
NG_032952.1:g.11529T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000339818.9:c.373+159T>G MANE Select ENSP00000344566.4:n.373+159T>G
ENST00000325223.7:c.373+159T>G ENSP00000317302.7:n.373+159T>G
ENST00000339818.8:c.373+159T>G ENSP00000344566.4:n.373+159T>G
ENST00000397956.7:c.373+159T>G ENSP00000381047.3:n.373+159T>G
ENST00000462742.1:n.2544+159T>G
ENST00000478674.1:n.432+159T>G
ENST00000496321.5:n.489+159T>G
NM_001271440.1:c.373+159T>G NP_001258369.1:n.373+159T>G
NM_001271441.1:c.373+159T>G NP_001258370.1:n.373+159T>G
NM_001271442.1:c.250+159T>G NP_001258371.1:n.250+159T>G
NM_004928.2:c.373+159T>G NP_004919.1:n.373+159T>G
XM_006724051.2:c.448+159T>G XP_006724114.1:n.448+159T>G
XM_006724052.2:c.448+159T>G XP_006724115.1:n.448+159T>G
XM_006724053.2:c.49+159T>G XP_006724116.1:n.49+159T>G
XR_937571.1:n.576+159T>G
XM_006724051.3:c.448+159T>G XP_006724114.1:n.448+159T>G
XM_006724053.3:c.49+159T>G XP_006724116.1:n.49+159T>G
XM_017028470.1:c.577+159T>G XP_016883959.1:n.577+159T>G
XM_017028471.1:c.322+159T>G XP_016883960.1:n.322+159T>G
XM_017028472.1:c.49+159T>G XP_016883961.1:n.49+159T>G
XR_937571.2:n.583+159T>G
NM_004928.3:c.373+159T>G MANE Select NP_004919.1:n.373+159T>G
NM_001271440.2:c.373+159T>G NP_001258369.1:n.373+159T>G
NM_001271441.2:c.373+159T>G NP_001258370.1:n.373+159T>G