Canonical Allele Identifier: CA10053726

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 1042233
• ClinVar RCV Id: RCV001346150
• dbSNP Id: rs754351767
• ExAC: 21:45752966 C / T
• gnomAD v2: 21-45752966-C-T
• gnomAD v3: 21-44333083-C-T
• gnomAD v4: 21-44333083-C-T
• MyVariant Identifiers: chr21:g.45752966C>T (hg19) ; chr21:g.44333083C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333083C>T , CM000683.2:g.44333083C>T	GRCh38
NC_000021.8:g.45752966C>T , CM000683.1:g.45752966C>T	GRCh37
NC_000021.7:g.44577394C>T	NCBI36
NG_032952.1:g.11320G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.323G>A MANE Select	ENSP00000344566.4:p.Arg108His
ENST00000325223.7:c.323G>A	ENSP00000317302.7:p.Arg108His
ENST00000339818.8:c.323G>A	ENSP00000344566.4:p.Arg108His
ENST00000397956.7:c.323G>A	ENSP00000381047.3:p.Arg108His
ENST00000462742.1:n.2494G>A
ENST00000478674.1:n.382G>A
ENST00000496321.5:n.439G>A
NM_001271440.1:c.323G>A	NP_001258369.1:p.Arg108His
NM_001271441.1:c.323G>A	NP_001258370.1:p.Arg108His
NM_001271442.1:c.200G>A	NP_001258371.1:p.Arg67His
NM_004928.2:c.323G>A	NP_004919.1:p.Arg108His
XM_006724051.2:c.398G>A	XP_006724114.1:p.Arg133His
XM_006724052.2:c.398G>A	XP_006724115.1:p.Arg133His
XM_006724053.2:c.-2G>A	XP_006724116.1:n.-2G>A
XR_937571.1:n.526G>A
XM_006724051.3:c.398G>A	XP_006724114.1:p.Arg133His
XM_006724053.3:c.-2G>A	XP_006724116.1:n.-2G>A
XM_017028470.1:c.527G>A	XP_016883959.1:p.Arg176His
XM_017028471.1:c.272G>A	XP_016883960.1:p.Arg91His
XM_017028472.1:c.-2G>A	XP_016883961.1:n.-2G>A
XR_937571.2:n.533G>A
NM_004928.3:c.323G>A MANE Select	NP_004919.1:p.Arg108His
NM_001271440.2:c.323G>A	NP_001258369.1:p.Arg108His
NM_001271441.2:c.323G>A	NP_001258370.1:p.Arg108His