Canonical Allele Identifier: CA512670473

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45750183C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44330300C>T , CM000683.2:g.44330300C>T	GRCh38
NC_000021.8:g.45750183C>T , CM000683.1:g.45750183C>T	GRCh37
NC_000021.7:g.44574611C>T	NCBI36
NG_032952.1:g.14103G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.669G>A MANE Select	ENSP00000344566.4:p.Leu223=
ENST00000325223.7:c.666G>A	ENSP00000317302.7:p.Leu222=
ENST00000339818.8:c.669G>A	ENSP00000344566.4:p.Leu223=
ENST00000397956.7:c.1026G>A	ENSP00000381047.3:p.Leu342=
ENST00000462742.1:n.4123G>A
ENST00000470196.5:n.245G>A
ENST00000496321.5:n.782G>A
NM_001271440.1:c.666G>A	NP_001258369.1:p.Leu222=
NM_001271441.1:c.1026G>A	NP_001258370.1:p.Leu342=
NM_001271442.1:c.543G>A	NP_001258371.1:p.Leu181=
NM_004928.2:c.669G>A	NP_004919.1:p.Leu223=
XM_006724051.2:c.744G>A	XP_006724114.1:p.Leu248=
XM_006724052.2:c.741G>A	XP_006724115.1:p.Leu247=
XM_006724053.2:c.345G>A	XP_006724116.1:p.Leu115=
XR_937571.1:n.1229G>A
XM_006724051.3:c.744G>A	XP_006724114.1:p.Leu248=
XM_006724053.3:c.345G>A	XP_006724116.1:p.Leu115=
XM_017028470.1:c.870G>A	XP_016883959.1:p.Leu290=
XM_017028471.1:c.618G>A	XP_016883960.1:p.Leu206=
XM_017028472.1:c.342G>A	XP_016883961.1:p.Leu114=
XR_937571.2:n.1236G>A
NM_004928.3:c.669G>A MANE Select	NP_004919.1:p.Leu223=
NM_001271440.2:c.666G>A	NP_001258369.1:p.Leu222=
NM_001271441.2:c.1026G>A	NP_001258370.1:p.Leu342=