Canonical Allele Identifier: CA410448530

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45750181A>C (hg19) ; chr21:g.44330298A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44330298A>C , CM000683.2:g.44330298A>C	GRCh38
NC_000021.8:g.45750181A>C , CM000683.1:g.45750181A>C	GRCh37
NC_000021.7:g.44574609A>C	NCBI36
NG_032952.1:g.14105T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.671T>G MANE Select	ENSP00000344566.4:p.Leu224Arg
ENST00000325223.7:c.668T>G	ENSP00000317302.7:p.Leu223Arg
ENST00000339818.8:c.671T>G	ENSP00000344566.4:p.Leu224Arg
ENST00000397956.7:c.1028T>G	ENSP00000381047.3:p.Leu343Arg
ENST00000462742.1:n.4125T>G
ENST00000470196.5:n.247T>G
ENST00000496321.5:n.784T>G
NM_001271440.1:c.668T>G	NP_001258369.1:p.Leu223Arg
NM_001271441.1:c.1028T>G	NP_001258370.1:p.Leu343Arg
NM_001271442.1:c.545T>G	NP_001258371.1:p.Leu182Arg
NM_004928.2:c.671T>G	NP_004919.1:p.Leu224Arg
XM_006724051.2:c.746T>G	XP_006724114.1:p.Leu249Arg
XM_006724052.2:c.743T>G	XP_006724115.1:p.Leu248Arg
XM_006724053.2:c.347T>G	XP_006724116.1:p.Leu116Arg
XR_937571.1:n.1231T>G
XM_006724051.3:c.746T>G	XP_006724114.1:p.Leu249Arg
XM_006724053.3:c.347T>G	XP_006724116.1:p.Leu116Arg
XM_017028470.1:c.872T>G	XP_016883959.1:p.Leu291Arg
XM_017028471.1:c.620T>G	XP_016883960.1:p.Leu207Arg
XM_017028472.1:c.344T>G	XP_016883961.1:p.Leu115Arg
XR_937571.2:n.1238T>G
NM_004928.3:c.671T>G MANE Select	NP_004919.1:p.Leu224Arg
NM_001271440.2:c.668T>G	NP_001258369.1:p.Leu223Arg
NM_001271441.2:c.1028T>G	NP_001258370.1:p.Leu343Arg