Canonical Allele Identifier: CA410448543

Gene: CFAP410

Linked Data

• gnomAD v4: 21-44330302-G-T
• MyVariant Identifiers: chr21:g.45750185G>T (hg19) ; chr21:g.44330302G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44330302G>T , CM000683.2:g.44330302G>T	GRCh38
NC_000021.8:g.45750185G>T , CM000683.1:g.45750185G>T	GRCh37
NC_000021.7:g.44574613G>T	NCBI36
NG_032952.1:g.14101C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.667C>A MANE Select	ENSP00000344566.4:p.Leu223Met
ENST00000325223.7:c.664C>A	ENSP00000317302.7:p.Leu222Met
ENST00000339818.8:c.667C>A	ENSP00000344566.4:p.Leu223Met
ENST00000397956.7:c.1024C>A	ENSP00000381047.3:p.Leu342Met
ENST00000462742.1:n.4121C>A
ENST00000470196.5:n.243C>A
ENST00000496321.5:n.780C>A
NM_001271440.1:c.664C>A	NP_001258369.1:p.Leu222Met
NM_001271441.1:c.1024C>A	NP_001258370.1:p.Leu342Met
NM_001271442.1:c.541C>A	NP_001258371.1:p.Leu181Met
NM_004928.2:c.667C>A	NP_004919.1:p.Leu223Met
XM_006724051.2:c.742C>A	XP_006724114.1:p.Leu248Met
XM_006724052.2:c.739C>A	XP_006724115.1:p.Leu247Met
XM_006724053.2:c.343C>A	XP_006724116.1:p.Leu115Met
XR_937571.1:n.1227C>A
XM_006724051.3:c.742C>A	XP_006724114.1:p.Leu248Met
XM_006724053.3:c.343C>A	XP_006724116.1:p.Leu115Met
XM_017028470.1:c.868C>A	XP_016883959.1:p.Leu290Met
XM_017028471.1:c.616C>A	XP_016883960.1:p.Leu206Met
XM_017028472.1:c.340C>A	XP_016883961.1:p.Leu114Met
XR_937571.2:n.1234C>A
NM_004928.3:c.667C>A MANE Select	NP_004919.1:p.Leu223Met
NM_001271440.2:c.664C>A	NP_001258369.1:p.Leu222Met
NM_001271441.2:c.1024C>A	NP_001258370.1:p.Leu342Met