Canonical Allele Identifier: CA10053715

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 1042464
• ClinVar RCV Id: RCV001346422
• dbSNP Id: rs775496851
• ExAC: 21:45752940 G / A
• gnomAD v2: 21-45752940-G-A
• gnomAD v4: 21-44333057-G-A
• MyVariant Identifiers: chr21:g.45752940G>A (hg19) ; chr21:g.44333057G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333057G>A , CM000683.2:g.44333057G>A	GRCh38
NC_000021.8:g.45752940G>A , CM000683.1:g.45752940G>A	GRCh37
NC_000021.7:g.44577368G>A	NCBI36
NG_032952.1:g.11346C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.349C>T MANE Select	ENSP00000344566.4:p.Arg117Cys
ENST00000325223.7:c.349C>T	ENSP00000317302.7:p.Arg117Cys
ENST00000339818.8:c.349C>T	ENSP00000344566.4:p.Arg117Cys
ENST00000397956.7:c.349C>T	ENSP00000381047.3:p.Arg117Cys
ENST00000462742.1:n.2520C>T
ENST00000478674.1:n.408C>T
ENST00000496321.5:n.465C>T
NM_001271440.1:c.349C>T	NP_001258369.1:p.Arg117Cys
NM_001271441.1:c.349C>T	NP_001258370.1:p.Arg117Cys
NM_001271442.1:c.226C>T	NP_001258371.1:p.Arg76Cys
NM_004928.2:c.349C>T	NP_004919.1:p.Arg117Cys
XM_006724051.2:c.424C>T	XP_006724114.1:p.Arg142Cys
XM_006724052.2:c.424C>T	XP_006724115.1:p.Arg142Cys
XM_006724053.2:c.25C>T	XP_006724116.1:p.Arg9Cys
XR_937571.1:n.552C>T
XM_006724051.3:c.424C>T	XP_006724114.1:p.Arg142Cys
XM_006724053.3:c.25C>T	XP_006724116.1:p.Arg9Cys
XM_017028470.1:c.553C>T	XP_016883959.1:p.Arg185Cys
XM_017028471.1:c.298C>T	XP_016883960.1:p.Arg100Cys
XM_017028472.1:c.25C>T	XP_016883961.1:p.Arg9Cys
XR_937571.2:n.559C>T
NM_004928.3:c.349C>T MANE Select	NP_004919.1:p.Arg117Cys
NM_001271440.2:c.349C>T	NP_001258369.1:p.Arg117Cys
NM_001271441.2:c.349C>T	NP_001258370.1:p.Arg117Cys