Canonical Allele Identifier: CA410448535

Gene: CFAP410

Linked Data

• gnomAD v4: 21-44330299-G-T
• MyVariant Identifiers: chr21:g.45750182G>T (hg19) ; chr21:g.44330299G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44330299G>T , CM000683.2:g.44330299G>T	GRCh38
NC_000021.8:g.45750182G>T , CM000683.1:g.45750182G>T	GRCh37
NC_000021.7:g.44574610G>T	NCBI36
NG_032952.1:g.14104C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.670C>A MANE Select	ENSP00000344566.4:p.Leu224Met
ENST00000325223.7:c.667C>A	ENSP00000317302.7:p.Leu223Met
ENST00000339818.8:c.670C>A	ENSP00000344566.4:p.Leu224Met
ENST00000397956.7:c.1027C>A	ENSP00000381047.3:p.Leu343Met
ENST00000462742.1:n.4124C>A
ENST00000470196.5:n.246C>A
ENST00000496321.5:n.783C>A
NM_001271440.1:c.667C>A	NP_001258369.1:p.Leu223Met
NM_001271441.1:c.1027C>A	NP_001258370.1:p.Leu343Met
NM_001271442.1:c.544C>A	NP_001258371.1:p.Leu182Met
NM_004928.2:c.670C>A	NP_004919.1:p.Leu224Met
XM_006724051.2:c.745C>A	XP_006724114.1:p.Leu249Met
XM_006724052.2:c.742C>A	XP_006724115.1:p.Leu248Met
XM_006724053.2:c.346C>A	XP_006724116.1:p.Leu116Met
XR_937571.1:n.1230C>A
XM_006724051.3:c.745C>A	XP_006724114.1:p.Leu249Met
XM_006724053.3:c.346C>A	XP_006724116.1:p.Leu116Met
XM_017028470.1:c.871C>A	XP_016883959.1:p.Leu291Met
XM_017028471.1:c.619C>A	XP_016883960.1:p.Leu207Met
XM_017028472.1:c.343C>A	XP_016883961.1:p.Leu115Met
XR_937571.2:n.1237C>A
NM_004928.3:c.670C>A MANE Select	NP_004919.1:p.Leu224Met
NM_001271440.2:c.667C>A	NP_001258369.1:p.Leu223Met
NM_001271441.2:c.1027C>A	NP_001258370.1:p.Leu343Met