Canonical Allele Identifier: CA410457561

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45753114T>G (hg19) ; chr21:g.44333231T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.175A>C MANE Select	ENSP00000344566.4:p.Ser59Arg
ENST00000325223.7:c.175A>C	ENSP00000317302.7:p.Ser59Arg
ENST00000339818.8:c.175A>C	ENSP00000344566.4:p.Ser59Arg
ENST00000397956.7:c.175A>C	ENSP00000381047.3:p.Ser59Arg
ENST00000462742.1:n.2346A>C
ENST00000478674.1:n.234A>C
ENST00000496321.5:n.291A>C
NM_001271440.1:c.175A>C	NP_001258369.1:p.Ser59Arg
NM_001271441.1:c.175A>C	NP_001258370.1:p.Ser59Arg
NM_001271442.1:c.52A>C	NP_001258371.1:p.Ser18Arg
NM_004928.2:c.175A>C	NP_004919.1:p.Ser59Arg
XM_006724051.2:c.250A>C	XP_006724114.1:p.Ser84Arg
XM_006724052.2:c.250A>C	XP_006724115.1:p.Ser84Arg
XM_006724053.2:c.-150A>C	XP_006724116.1:n.-150A>C
XR_937571.1:n.378A>C
XM_006724051.3:c.250A>C	XP_006724114.1:p.Ser84Arg
XM_006724053.3:c.-150A>C	XP_006724116.1:n.-150A>C
XM_017028470.1:c.379A>C	XP_016883959.1:p.Ser127Arg
XM_017028471.1:c.124A>C	XP_016883960.1:p.Ser42Arg
XM_017028472.1:c.-150A>C	XP_016883961.1:n.-150A>C
XR_937571.2:n.385A>C
NM_004928.3:c.175A>C MANE Select	NP_004919.1:p.Ser59Arg
NM_001271440.2:c.175A>C	NP_001258369.1:p.Ser59Arg
NM_001271441.2:c.175A>C	NP_001258370.1:p.Ser59Arg