Canonical Allele Identifier: CA410457555

Gene: CFAP410

Linked Data

• gnomAD v4: 21-44333231-T-A
• MyVariant Identifiers: chr21:g.45753114T>A (hg19) ; chr21:g.44333231T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333231T>A , CM000683.2:g.44333231T>A	GRCh38
NC_000021.8:g.45753114T>A , CM000683.1:g.45753114T>A	GRCh37
NC_000021.7:g.44577542T>A	NCBI36
NG_032952.1:g.11172A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.175A>T MANE Select	ENSP00000344566.4:p.Ser59Cys
ENST00000325223.7:c.175A>T	ENSP00000317302.7:p.Ser59Cys
ENST00000339818.8:c.175A>T	ENSP00000344566.4:p.Ser59Cys
ENST00000397956.7:c.175A>T	ENSP00000381047.3:p.Ser59Cys
ENST00000462742.1:n.2346A>T
ENST00000478674.1:n.234A>T
ENST00000496321.5:n.291A>T
NM_001271440.1:c.175A>T	NP_001258369.1:p.Ser59Cys
NM_001271441.1:c.175A>T	NP_001258370.1:p.Ser59Cys
NM_001271442.1:c.52A>T	NP_001258371.1:p.Ser18Cys
NM_004928.2:c.175A>T	NP_004919.1:p.Ser59Cys
XM_006724051.2:c.250A>T	XP_006724114.1:p.Ser84Cys
XM_006724052.2:c.250A>T	XP_006724115.1:p.Ser84Cys
XM_006724053.2:c.-150A>T	XP_006724116.1:n.-150A>T
XR_937571.1:n.378A>T
XM_006724051.3:c.250A>T	XP_006724114.1:p.Ser84Cys
XM_006724053.3:c.-150A>T	XP_006724116.1:n.-150A>T
XM_017028470.1:c.379A>T	XP_016883959.1:p.Ser127Cys
XM_017028471.1:c.124A>T	XP_016883960.1:p.Ser42Cys
XM_017028472.1:c.-150A>T	XP_016883961.1:n.-150A>T
XR_937571.2:n.385A>T
NM_004928.3:c.175A>T MANE Select	NP_004919.1:p.Ser59Cys
NM_001271440.2:c.175A>T	NP_001258369.1:p.Ser59Cys
NM_001271441.2:c.175A>T	NP_001258370.1:p.Ser59Cys