Canonical Allele Identifier: CA10053758

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 428573
• ClinVar RCV Id: RCV000492059 ; RCV000504995 ; RCV000504803 ; RCV001075775 ; RCV001091473 ; RCV001376208 ; RCV003409679
• dbSNP Id: rs140451304
• ExAC: 21:45753071 C / G
• gnomAD v2: 21-45753071-C-G
• gnomAD v3: 21-44333188-C-G
• gnomAD v4: 21-44333188-C-G
• MyVariant Identifiers: chr21:g.45753071C>G (hg19) ; chr21:g.44333188C>G (hg38)
• PubMed: PMID:26167768 ; PMID:26974433 ; PMID:28041643 ; PMID:28422394

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333188C>G , CM000683.2:g.44333188C>G	GRCh38
NC_000021.8:g.45753071C>G , CM000683.1:g.45753071C>G	GRCh37
NC_000021.7:g.44577499C>G	NCBI36
NG_032952.1:g.11215G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.218G>C MANE Select	ENSP00000344566.4:p.Arg73Pro
ENST00000325223.7:c.218G>C	ENSP00000317302.7:p.Arg73Pro
ENST00000339818.8:c.218G>C	ENSP00000344566.4:p.Arg73Pro
ENST00000397956.7:c.218G>C	ENSP00000381047.3:p.Arg73Pro
ENST00000462742.1:n.2389G>C
ENST00000478674.1:n.277G>C
ENST00000496321.5:n.334G>C
NM_001271440.1:c.218G>C	NP_001258369.1:p.Arg73Pro
NM_001271441.1:c.218G>C	NP_001258370.1:p.Arg73Pro
NM_001271442.1:c.95G>C	NP_001258371.1:p.Arg32Pro
NM_004928.2:c.218G>C	NP_004919.1:p.Arg73Pro
XM_006724051.2:c.293G>C	XP_006724114.1:p.Arg98Pro
XM_006724052.2:c.293G>C	XP_006724115.1:p.Arg98Pro
XM_006724053.2:c.-107G>C	XP_006724116.1:n.-107G>C
XR_937571.1:n.421G>C
XM_006724051.3:c.293G>C	XP_006724114.1:p.Arg98Pro
XM_006724053.3:c.-107G>C	XP_006724116.1:n.-107G>C
XM_017028470.1:c.422G>C	XP_016883959.1:p.Arg141Pro
XM_017028471.1:c.167G>C	XP_016883960.1:p.Arg56Pro
XM_017028472.1:c.-107G>C	XP_016883961.1:n.-107G>C
XR_937571.2:n.428G>C
NM_004928.3:c.218G>C MANE Select	NP_004919.1:p.Arg73Pro
NM_001271440.2:c.218G>C	NP_001258369.1:p.Arg73Pro
NM_001271441.2:c.218G>C	NP_001258370.1:p.Arg73Pro