Canonical Allele Identifier: CA410448552

Gene: CFAP410

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.662T>G MANE Select	ENSP00000344566.4:p.Leu221Arg
ENST00000325223.7:c.659T>G	ENSP00000317302.7:p.Leu220Arg
ENST00000339818.8:c.662T>G	ENSP00000344566.4:p.Leu221Arg
ENST00000397956.7:c.1019T>G	ENSP00000381047.3:p.Leu340Arg
ENST00000462742.1:n.4116T>G
ENST00000470196.5:n.238T>G
ENST00000496321.5:n.775T>G
NM_001271440.1:c.659T>G	NP_001258369.1:p.Leu220Arg
NM_001271441.1:c.1019T>G	NP_001258370.1:p.Leu340Arg
NM_001271442.1:c.536T>G	NP_001258371.1:p.Leu179Arg
NM_004928.2:c.662T>G	NP_004919.1:p.Leu221Arg
XM_006724051.2:c.737T>G	XP_006724114.1:p.Leu246Arg
XM_006724052.2:c.734T>G	XP_006724115.1:p.Leu245Arg
XM_006724053.2:c.338T>G	XP_006724116.1:p.Leu113Arg
XR_937571.1:n.1222T>G
XM_006724051.3:c.737T>G	XP_006724114.1:p.Leu246Arg
XM_006724053.3:c.338T>G	XP_006724116.1:p.Leu113Arg
XM_017028470.1:c.863T>G	XP_016883959.1:p.Leu288Arg
XM_017028471.1:c.611T>G	XP_016883960.1:p.Leu204Arg
XM_017028472.1:c.335T>G	XP_016883961.1:p.Leu112Arg
XR_937571.2:n.1229T>G
NM_004928.3:c.662T>G MANE Select	NP_004919.1:p.Leu221Arg
NM_001271440.2:c.659T>G	NP_001258369.1:p.Leu220Arg
NM_001271441.2:c.1019T>G	NP_001258370.1:p.Leu340Arg