Canonical Allele Identifier: CA410456504

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 2129376
• ClinVar RCV Id: RCV003049956
• dbSNP Id: rs1466500162
• gnomAD v2: 21-45752990-C-T
• gnomAD v3: 21-44333107-C-T
• gnomAD v4: 21-44333107-C-T
• MyVariant Identifiers: chr21:g.45752990C>T (hg19) ; chr21:g.44333107C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333107C>T , CM000683.2:g.44333107C>T	GRCh38
NC_000021.8:g.45752990C>T , CM000683.1:g.45752990C>T	GRCh37
NC_000021.7:g.44577418C>T	NCBI36
NG_032952.1:g.11296G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.299G>A MANE Select	ENSP00000344566.4:p.Cys100Tyr
ENST00000325223.7:c.299G>A	ENSP00000317302.7:p.Cys100Tyr
ENST00000339818.8:c.299G>A	ENSP00000344566.4:p.Cys100Tyr
ENST00000397956.7:c.299G>A	ENSP00000381047.3:p.Cys100Tyr
ENST00000462742.1:n.2470G>A
ENST00000478674.1:n.358G>A
ENST00000496321.5:n.415G>A
NM_001271440.1:c.299G>A	NP_001258369.1:p.Cys100Tyr
NM_001271441.1:c.299G>A	NP_001258370.1:p.Cys100Tyr
NM_001271442.1:c.176G>A	NP_001258371.1:p.Cys59Tyr
NM_004928.2:c.299G>A	NP_004919.1:p.Cys100Tyr
XM_006724051.2:c.374G>A	XP_006724114.1:p.Cys125Tyr
XM_006724052.2:c.374G>A	XP_006724115.1:p.Cys125Tyr
XM_006724053.2:c.-26G>A	XP_006724116.1:n.-26G>A
XR_937571.1:n.502G>A
XM_006724051.3:c.374G>A	XP_006724114.1:p.Cys125Tyr
XM_006724053.3:c.-26G>A	XP_006724116.1:n.-26G>A
XM_017028470.1:c.503G>A	XP_016883959.1:p.Cys168Tyr
XM_017028471.1:c.248G>A	XP_016883960.1:p.Cys83Tyr
XM_017028472.1:c.-26G>A	XP_016883961.1:n.-26G>A
XR_937571.2:n.509G>A
NM_004928.3:c.299G>A MANE Select	NP_004919.1:p.Cys100Tyr
NM_001271440.2:c.299G>A	NP_001258369.1:p.Cys100Tyr
NM_001271441.2:c.299G>A	NP_001258370.1:p.Cys100Tyr