Canonical Allele Identifier: CA410456173

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 964390
• ClinVar RCV Id: RCV001238604
• dbSNP Id: rs1602079250
• gnomAD v4: 21-44333042-C-G
• MyVariant Identifiers: chr21:g.45752925C>G (hg19) ; chr21:g.44333042C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333042C>G , CM000683.2:g.44333042C>G	GRCh38
NC_000021.8:g.45752925C>G , CM000683.1:g.45752925C>G	GRCh37
NC_000021.7:g.44577353C>G	NCBI36
NG_032952.1:g.11361G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.364G>C MANE Select	ENSP00000344566.4:p.Asp122His
ENST00000325223.7:c.364G>C	ENSP00000317302.7:p.Asp122His
ENST00000339818.8:c.364G>C	ENSP00000344566.4:p.Asp122His
ENST00000397956.7:c.364G>C	ENSP00000381047.3:p.Asp122His
ENST00000462742.1:n.2535G>C
ENST00000478674.1:n.423G>C
ENST00000496321.5:n.480G>C
NM_001271440.1:c.364G>C	NP_001258369.1:p.Asp122His
NM_001271441.1:c.364G>C	NP_001258370.1:p.Asp122His
NM_001271442.1:c.241G>C	NP_001258371.1:p.Asp81His
NM_004928.2:c.364G>C	NP_004919.1:p.Asp122His
XM_006724051.2:c.439G>C	XP_006724114.1:p.Asp147His
XM_006724052.2:c.439G>C	XP_006724115.1:p.Asp147His
XM_006724053.2:c.40G>C	XP_006724116.1:p.Asp14His
XR_937571.1:n.567G>C
XM_006724051.3:c.439G>C	XP_006724114.1:p.Asp147His
XM_006724053.3:c.40G>C	XP_006724116.1:p.Asp14His
XM_017028470.1:c.568G>C	XP_016883959.1:p.Asp190His
XM_017028471.1:c.313G>C	XP_016883960.1:p.Asp105His
XM_017028472.1:c.40G>C	XP_016883961.1:p.Asp14His
XR_937571.2:n.574G>C
NM_004928.3:c.364G>C MANE Select	NP_004919.1:p.Asp122His
NM_001271440.2:c.364G>C	NP_001258369.1:p.Asp122His
NM_001271441.2:c.364G>C	NP_001258370.1:p.Asp122His