Canonical Allele Identifier: CA10053732

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 1413683
• ClinVar RCV Id: RCV001945085
• dbSNP Id: rs780887106
• ExAC: 21:45752988 C / T
• gnomAD v2: 21-45752988-C-T
• gnomAD v3: 21-44333105-C-T
• gnomAD v4: 21-44333105-C-T
• COSMIC: COSM5755692
• MyVariant Identifiers: chr21:g.45752988C>T (hg19) ; chr21:g.44333105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333105C>T , CM000683.2:g.44333105C>T	GRCh38
NC_000021.8:g.45752988C>T , CM000683.1:g.45752988C>T	GRCh37
NC_000021.7:g.44577416C>T	NCBI36
NG_032952.1:g.11298G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.301G>A MANE Select	ENSP00000344566.4:p.Gly101Ser
ENST00000325223.7:c.301G>A	ENSP00000317302.7:p.Gly101Ser
ENST00000339818.8:c.301G>A	ENSP00000344566.4:p.Gly101Ser
ENST00000397956.7:c.301G>A	ENSP00000381047.3:p.Gly101Ser
ENST00000462742.1:n.2472G>A
ENST00000478674.1:n.360G>A
ENST00000496321.5:n.417G>A
NM_001271440.1:c.301G>A	NP_001258369.1:p.Gly101Ser
NM_001271441.1:c.301G>A	NP_001258370.1:p.Gly101Ser
NM_001271442.1:c.178G>A	NP_001258371.1:p.Gly60Ser
NM_004928.2:c.301G>A	NP_004919.1:p.Gly101Ser
XM_006724051.2:c.376G>A	XP_006724114.1:p.Gly126Ser
XM_006724052.2:c.376G>A	XP_006724115.1:p.Gly126Ser
XM_006724053.2:c.-24G>A	XP_006724116.1:n.-24G>A
XR_937571.1:n.504G>A
XM_006724051.3:c.376G>A	XP_006724114.1:p.Gly126Ser
XM_006724053.3:c.-24G>A	XP_006724116.1:n.-24G>A
XM_017028470.1:c.505G>A	XP_016883959.1:p.Gly169Ser
XM_017028471.1:c.250G>A	XP_016883960.1:p.Gly84Ser
XM_017028472.1:c.-24G>A	XP_016883961.1:n.-24G>A
XR_937571.2:n.511G>A
NM_004928.3:c.301G>A MANE Select	NP_004919.1:p.Gly101Ser
NM_001271440.2:c.301G>A	NP_001258369.1:p.Gly101Ser
NM_001271441.2:c.301G>A	NP_001258370.1:p.Gly101Ser