Canonical Allele Identifier: CA512670570
Gene: CFAP410 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45752750G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44332867G>T , CM000683.2:g.44332867G>T GRCh38
NC_000021.8:g.45752750G>T , CM000683.1:g.45752750G>T GRCh37
NC_000021.7:g.44577178G>T NCBI36
NG_032952.1:g.11536C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000339818.9:c.373+166C>A MANE Select ENSP00000344566.4:n.373+166C>A
ENST00000325223.7:c.373+166C>A ENSP00000317302.7:n.373+166C>A
ENST00000339818.8:c.373+166C>A ENSP00000344566.4:n.373+166C>A
ENST00000397956.7:c.373+166C>A ENSP00000381047.3:n.373+166C>A
ENST00000462742.1:n.2544+166C>A
ENST00000478674.1:n.432+166C>A
ENST00000496321.5:n.489+166C>A
NM_001271440.1:c.373+166C>A NP_001258369.1:n.373+166C>A
NM_001271441.1:c.373+166C>A NP_001258370.1:n.373+166C>A
NM_001271442.1:c.250+166C>A NP_001258371.1:n.250+166C>A
NM_004928.2:c.373+166C>A NP_004919.1:n.373+166C>A
XM_006724051.2:c.448+166C>A XP_006724114.1:n.448+166C>A
XM_006724052.2:c.448+166C>A XP_006724115.1:n.448+166C>A
XM_006724053.2:c.49+166C>A XP_006724116.1:n.49+166C>A
XR_937571.1:n.576+166C>A
XM_006724051.3:c.448+166C>A XP_006724114.1:n.448+166C>A
XM_006724053.3:c.49+166C>A XP_006724116.1:n.49+166C>A
XM_017028470.1:c.577+166C>A XP_016883959.1:n.577+166C>A
XM_017028471.1:c.322+166C>A XP_016883960.1:n.322+166C>A
XM_017028472.1:c.49+166C>A XP_016883961.1:n.49+166C>A
XR_937571.2:n.583+166C>A
NM_004928.3:c.373+166C>A MANE Select NP_004919.1:n.373+166C>A
NM_001271440.2:c.373+166C>A NP_001258369.1:n.373+166C>A
NM_001271441.2:c.373+166C>A NP_001258370.1:n.373+166C>A