Canonical Allele Identifier: CA410448536

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45750184A>C (hg19) ; chr21:g.44330301A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44330301A>C , CM000683.2:g.44330301A>C	GRCh38
NC_000021.8:g.45750184A>C , CM000683.1:g.45750184A>C	GRCh37
NC_000021.7:g.44574612A>C	NCBI36
NG_032952.1:g.14102T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.668T>G MANE Select	ENSP00000344566.4:p.Leu223Arg
ENST00000325223.7:c.665T>G	ENSP00000317302.7:p.Leu222Arg
ENST00000339818.8:c.668T>G	ENSP00000344566.4:p.Leu223Arg
ENST00000397956.7:c.1025T>G	ENSP00000381047.3:p.Leu342Arg
ENST00000462742.1:n.4122T>G
ENST00000470196.5:n.244T>G
ENST00000496321.5:n.781T>G
NM_001271440.1:c.665T>G	NP_001258369.1:p.Leu222Arg
NM_001271441.1:c.1025T>G	NP_001258370.1:p.Leu342Arg
NM_001271442.1:c.542T>G	NP_001258371.1:p.Leu181Arg
NM_004928.2:c.668T>G	NP_004919.1:p.Leu223Arg
XM_006724051.2:c.743T>G	XP_006724114.1:p.Leu248Arg
XM_006724052.2:c.740T>G	XP_006724115.1:p.Leu247Arg
XM_006724053.2:c.344T>G	XP_006724116.1:p.Leu115Arg
XR_937571.1:n.1228T>G
XM_006724051.3:c.743T>G	XP_006724114.1:p.Leu248Arg
XM_006724053.3:c.344T>G	XP_006724116.1:p.Leu115Arg
XM_017028470.1:c.869T>G	XP_016883959.1:p.Leu290Arg
XM_017028471.1:c.617T>G	XP_016883960.1:p.Leu206Arg
XM_017028472.1:c.341T>G	XP_016883961.1:p.Leu114Arg
XR_937571.2:n.1235T>G
NM_004928.3:c.668T>G MANE Select	NP_004919.1:p.Leu223Arg
NM_001271440.2:c.665T>G	NP_001258369.1:p.Leu222Arg
NM_001271441.2:c.1025T>G	NP_001258370.1:p.Leu342Arg