Canonical Allele Identifier: CA321784889

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 1998381
• ClinVar RCV Id: RCV002810422
• dbSNP Id: rs778987436
• gnomAD v2: 21-45753065-G-C
• gnomAD v4: 21-44333182-G-C
• MyVariant Identifiers: chr21:g.45753065G>C (hg19) ; chr21:g.44333182G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333182G>C , CM000683.2:g.44333182G>C	GRCh38
NC_000021.8:g.45753065G>C , CM000683.1:g.45753065G>C	GRCh37
NC_000021.7:g.44577493G>C	NCBI36
NG_032952.1:g.11221C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.224C>G MANE Select	ENSP00000344566.4:p.Pro75Arg
ENST00000325223.7:c.224C>G	ENSP00000317302.7:p.Pro75Arg
ENST00000339818.8:c.224C>G	ENSP00000344566.4:p.Pro75Arg
ENST00000397956.7:c.224C>G	ENSP00000381047.3:p.Pro75Arg
ENST00000462742.1:n.2395C>G
ENST00000478674.1:n.283C>G
ENST00000496321.5:n.340C>G
NM_001271440.1:c.224C>G	NP_001258369.1:p.Pro75Arg
NM_001271441.1:c.224C>G	NP_001258370.1:p.Pro75Arg
NM_001271442.1:c.101C>G	NP_001258371.1:p.Pro34Arg
NM_004928.2:c.224C>G	NP_004919.1:p.Pro75Arg
XM_006724051.2:c.299C>G	XP_006724114.1:p.Pro100Arg
XM_006724052.2:c.299C>G	XP_006724115.1:p.Pro100Arg
XM_006724053.2:c.-101C>G	XP_006724116.1:n.-101C>G
XR_937571.1:n.427C>G
XM_006724051.3:c.299C>G	XP_006724114.1:p.Pro100Arg
XM_006724053.3:c.-101C>G	XP_006724116.1:n.-101C>G
XM_017028470.1:c.428C>G	XP_016883959.1:p.Pro143Arg
XM_017028471.1:c.173C>G	XP_016883960.1:p.Pro58Arg
XM_017028472.1:c.-101C>G	XP_016883961.1:n.-101C>G
XR_937571.2:n.434C>G
NM_004928.3:c.224C>G MANE Select	NP_004919.1:p.Pro75Arg
NM_001271440.2:c.224C>G	NP_001258369.1:p.Pro75Arg
NM_001271441.2:c.224C>G	NP_001258370.1:p.Pro75Arg