Canonical Allele Identifier: CA410456739

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 2004927
• ClinVar RCV Id: RCV002820648
• dbSNP Id: rs2047683418
• gnomAD v4: 21-44333127-C-A
• MyVariant Identifiers: chr21:g.45753010C>A (hg19) ; chr21:g.44333127C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333127C>A , CM000683.2:g.44333127C>A	GRCh38
NC_000021.8:g.45753010C>A , CM000683.1:g.45753010C>A	GRCh37
NC_000021.7:g.44577438C>A	NCBI36
NG_032952.1:g.11276G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.279G>T MANE Select	ENSP00000344566.4:p.Trp93Cys
ENST00000325223.7:c.279G>T	ENSP00000317302.7:p.Trp93Cys
ENST00000339818.8:c.279G>T	ENSP00000344566.4:p.Trp93Cys
ENST00000397956.7:c.279G>T	ENSP00000381047.3:p.Trp93Cys
ENST00000462742.1:n.2450G>T
ENST00000478674.1:n.338G>T
ENST00000496321.5:n.395G>T
NM_001271440.1:c.279G>T	NP_001258369.1:p.Trp93Cys
NM_001271441.1:c.279G>T	NP_001258370.1:p.Trp93Cys
NM_001271442.1:c.156G>T	NP_001258371.1:p.Trp52Cys
NM_004928.2:c.279G>T	NP_004919.1:p.Trp93Cys
XM_006724051.2:c.354G>T	XP_006724114.1:p.Trp118Cys
XM_006724052.2:c.354G>T	XP_006724115.1:p.Trp118Cys
XM_006724053.2:c.-46G>T	XP_006724116.1:n.-46G>T
XR_937571.1:n.482G>T
XM_006724051.3:c.354G>T	XP_006724114.1:p.Trp118Cys
XM_006724053.3:c.-46G>T	XP_006724116.1:n.-46G>T
XM_017028470.1:c.483G>T	XP_016883959.1:p.Trp161Cys
XM_017028471.1:c.228G>T	XP_016883960.1:p.Trp76Cys
XM_017028472.1:c.-46G>T	XP_016883961.1:n.-46G>T
XR_937571.2:n.489G>T
NM_004928.3:c.279G>T MANE Select	NP_004919.1:p.Trp93Cys
NM_001271440.2:c.279G>T	NP_001258369.1:p.Trp93Cys
NM_001271441.2:c.279G>T	NP_001258370.1:p.Trp93Cys