Canonical Allele Identifier: CA410448553

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45750190A>T (hg19) ; chr21:g.44330307A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44330307A>T , CM000683.2:g.44330307A>T	GRCh38
NC_000021.8:g.45750190A>T , CM000683.1:g.45750190A>T	GRCh37
NC_000021.7:g.44574618A>T	NCBI36
NG_032952.1:g.14096T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.662T>A MANE Select	ENSP00000344566.4:p.Leu221Gln
ENST00000325223.7:c.659T>A	ENSP00000317302.7:p.Leu220Gln
ENST00000339818.8:c.662T>A	ENSP00000344566.4:p.Leu221Gln
ENST00000397956.7:c.1019T>A	ENSP00000381047.3:p.Leu340Gln
ENST00000462742.1:n.4116T>A
ENST00000470196.5:n.238T>A
ENST00000496321.5:n.775T>A
NM_001271440.1:c.659T>A	NP_001258369.1:p.Leu220Gln
NM_001271441.1:c.1019T>A	NP_001258370.1:p.Leu340Gln
NM_001271442.1:c.536T>A	NP_001258371.1:p.Leu179Gln
NM_004928.2:c.662T>A	NP_004919.1:p.Leu221Gln
XM_006724051.2:c.737T>A	XP_006724114.1:p.Leu246Gln
XM_006724052.2:c.734T>A	XP_006724115.1:p.Leu245Gln
XM_006724053.2:c.338T>A	XP_006724116.1:p.Leu113Gln
XR_937571.1:n.1222T>A
XM_006724051.3:c.737T>A	XP_006724114.1:p.Leu246Gln
XM_006724053.3:c.338T>A	XP_006724116.1:p.Leu113Gln
XM_017028470.1:c.863T>A	XP_016883959.1:p.Leu288Gln
XM_017028471.1:c.611T>A	XP_016883960.1:p.Leu204Gln
XM_017028472.1:c.335T>A	XP_016883961.1:p.Leu112Gln
XR_937571.2:n.1229T>A
NM_004928.3:c.662T>A MANE Select	NP_004919.1:p.Leu221Gln
NM_001271440.2:c.659T>A	NP_001258369.1:p.Leu220Gln
NM_001271441.2:c.1019T>A	NP_001258370.1:p.Leu340Gln