Canonical Allele Identifier: CA321784770

Gene: CFAP410

Linked Data

• dbSNP Id: rs9976610
• gnomAD v4: 21-44333056-C-G
• MyVariant Identifiers: chr21:g.45752939C>G (hg19) ; chr21:g.44333056C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333056C>G , CM000683.2:g.44333056C>G	GRCh38
NC_000021.8:g.45752939C>G , CM000683.1:g.45752939C>G	GRCh37
NC_000021.7:g.44577367C>G	NCBI36
NG_032952.1:g.11347G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.350G>C MANE Select	ENSP00000344566.4:p.Arg117Pro
ENST00000325223.7:c.350G>C	ENSP00000317302.7:p.Arg117Pro
ENST00000339818.8:c.350G>C	ENSP00000344566.4:p.Arg117Pro
ENST00000397956.7:c.350G>C	ENSP00000381047.3:p.Arg117Pro
ENST00000462742.1:n.2521G>C
ENST00000478674.1:n.409G>C
ENST00000496321.5:n.466G>C
NM_001271440.1:c.350G>C	NP_001258369.1:p.Arg117Pro
NM_001271441.1:c.350G>C	NP_001258370.1:p.Arg117Pro
NM_001271442.1:c.227G>C	NP_001258371.1:p.Arg76Pro
NM_004928.2:c.350G>C	NP_004919.1:p.Arg117Pro
XM_006724051.2:c.425G>C	XP_006724114.1:p.Arg142Pro
XM_006724052.2:c.425G>C	XP_006724115.1:p.Arg142Pro
XM_006724053.2:c.26G>C	XP_006724116.1:p.Arg9Pro
XR_937571.1:n.553G>C
XM_006724051.3:c.425G>C	XP_006724114.1:p.Arg142Pro
XM_006724053.3:c.26G>C	XP_006724116.1:p.Arg9Pro
XM_017028470.1:c.554G>C	XP_016883959.1:p.Arg185Pro
XM_017028471.1:c.299G>C	XP_016883960.1:p.Arg100Pro
XM_017028472.1:c.26G>C	XP_016883961.1:p.Arg9Pro
XR_937571.2:n.560G>C
NM_004928.3:c.350G>C MANE Select	NP_004919.1:p.Arg117Pro
NM_001271440.2:c.350G>C	NP_001258369.1:p.Arg117Pro
NM_001271441.2:c.350G>C	NP_001258370.1:p.Arg117Pro