Canonical Allele Identifier: CA10053635

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 428578
• ClinVar RCV Id: RCV000492054 ; RCV001851345
• dbSNP Id: rs778222701
• ExAC: 21:45751725 C / T
• gnomAD v2: 21-45751725-C-T
• gnomAD v4: 21-44331842-C-T
• MyVariant Identifiers: chr21:g.45751725C>T (hg19) ; chr21:g.44331842C>T (hg38)
• PubMed: PMID:20503334 ; PMID:23105016 ; PMID:26167768 ; PMID:26974433

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44331842C>T , CM000683.2:g.44331842C>T	GRCh38
NC_000021.8:g.45751725C>T , CM000683.1:g.45751725C>T	GRCh37
NC_000021.7:g.44576153C>T	NCBI36
NG_032952.1:g.12561G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.545+1G>A MANE Select	ENSP00000344566.4:n.545+1G>A
ENST00000325223.7:c.545+1G>A	ENSP00000317302.7:n.545+1G>A
ENST00000339818.8:c.545+1G>A	ENSP00000344566.4:n.545+1G>A
ENST00000397956.7:c.545+1G>A	ENSP00000381047.3:n.545+1G>A
ENST00000462742.1:n.2717G>A
ENST00000470196.5:n.121+6G>A
ENST00000496321.5:n.661+1G>A
NM_001271440.1:c.545+1G>A	NP_001258369.1:n.545+1G>A
NM_001271441.1:c.545+1G>A	NP_001258370.1:n.545+1G>A
NM_001271442.1:c.422+1G>A	NP_001258371.1:n.422+1G>A
NM_004928.2:c.545+1G>A	NP_004919.1:n.545+1G>A
XM_006724051.2:c.620+1G>A	XP_006724114.1:n.620+1G>A
XM_006724052.2:c.620+1G>A	XP_006724115.1:n.620+1G>A
XM_006724053.2:c.221+1G>A	XP_006724116.1:n.221+1G>A
XR_937571.1:n.748+1G>A
XM_006724051.3:c.620+1G>A	XP_006724114.1:n.620+1G>A
XM_006724053.3:c.221+1G>A	XP_006724116.1:n.221+1G>A
XM_017028470.1:c.749+1G>A	XP_016883959.1:n.749+1G>A
XM_017028471.1:c.494+1G>A	XP_016883960.1:n.494+1G>A
XM_017028472.1:c.221+1G>A	XP_016883961.1:n.221+1G>A
XR_937571.2:n.755+1G>A
NM_004928.3:c.545+1G>A MANE Select	NP_004919.1:n.545+1G>A
NM_001271440.2:c.545+1G>A	NP_001258369.1:n.545+1G>A
NM_001271441.2:c.545+1G>A	NP_001258370.1:n.545+1G>A