Canonical Allele Identifier: CA10053714

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 1170736
• ClinVar RCV Id: RCV001523362
• dbSNP Id: rs9976610
• ExAC: 21:45752939 C / T
• gnomAD v2: 21-45752939-C-T
• gnomAD v3: 21-44333056-C-T
• gnomAD v4: 21-44333056-C-T
• MyVariant Identifiers: chr21:g.45752939C>T (hg19) ; chr21:g.44333056C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.350G>A MANE Select	ENSP00000344566.4:p.Arg117His
ENST00000325223.7:c.350G>A	ENSP00000317302.7:p.Arg117His
ENST00000339818.8:c.350G>A	ENSP00000344566.4:p.Arg117His
ENST00000397956.7:c.350G>A	ENSP00000381047.3:p.Arg117His
ENST00000462742.1:n.2521G>A
ENST00000478674.1:n.409G>A
ENST00000496321.5:n.466G>A
NM_001271440.1:c.350G>A	NP_001258369.1:p.Arg117His
NM_001271441.1:c.350G>A	NP_001258370.1:p.Arg117His
NM_001271442.1:c.227G>A	NP_001258371.1:p.Arg76His
NM_004928.2:c.350G>A	NP_004919.1:p.Arg117His
XM_006724051.2:c.425G>A	XP_006724114.1:p.Arg142His
XM_006724052.2:c.425G>A	XP_006724115.1:p.Arg142His
XM_006724053.2:c.26G>A	XP_006724116.1:p.Arg9His
XR_937571.1:n.553G>A
XM_006724051.3:c.425G>A	XP_006724114.1:p.Arg142His
XM_006724053.3:c.26G>A	XP_006724116.1:p.Arg9His
XM_017028470.1:c.554G>A	XP_016883959.1:p.Arg185His
XM_017028471.1:c.299G>A	XP_016883960.1:p.Arg100His
XM_017028472.1:c.26G>A	XP_016883961.1:p.Arg9His
XR_937571.2:n.560G>A
NM_004928.3:c.350G>A MANE Select	NP_004919.1:p.Arg117His
NM_001271440.2:c.350G>A	NP_001258369.1:p.Arg117His
NM_001271441.2:c.350G>A	NP_001258370.1:p.Arg117His