Canonical Allele Identifier: CA410448566

Gene: CFAP410

Linked Data

• dbSNP Id: rs2047620419
• gnomAD v4: 21-44330311-T-A
• MyVariant Identifiers: chr21:g.45750194T>A (hg19) ; chr21:g.44330311T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44330311T>A , CM000683.2:g.44330311T>A	GRCh38
NC_000021.8:g.45750194T>A , CM000683.1:g.45750194T>A	GRCh37
NC_000021.7:g.44574622T>A	NCBI36
NG_032952.1:g.14092A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.658A>T MANE Select	ENSP00000344566.4:p.Ile220Phe
ENST00000325223.7:c.655A>T	ENSP00000317302.7:p.Ile219Phe
ENST00000339818.8:c.658A>T	ENSP00000344566.4:p.Ile220Phe
ENST00000397956.7:c.1015A>T	ENSP00000381047.3:p.Ile339Phe
ENST00000462742.1:n.4112A>T
ENST00000470196.5:n.234A>T
ENST00000496321.5:n.771A>T
NM_001271440.1:c.655A>T	NP_001258369.1:p.Ile219Phe
NM_001271441.1:c.1015A>T	NP_001258370.1:p.Ile339Phe
NM_001271442.1:c.532A>T	NP_001258371.1:p.Ile178Phe
NM_004928.2:c.658A>T	NP_004919.1:p.Ile220Phe
XM_006724051.2:c.733A>T	XP_006724114.1:p.Ile245Phe
XM_006724052.2:c.730A>T	XP_006724115.1:p.Ile244Phe
XM_006724053.2:c.334A>T	XP_006724116.1:p.Ile112Phe
XR_937571.1:n.1218A>T
XM_006724051.3:c.733A>T	XP_006724114.1:p.Ile245Phe
XM_006724053.3:c.334A>T	XP_006724116.1:p.Ile112Phe
XM_017028470.1:c.859A>T	XP_016883959.1:p.Ile287Phe
XM_017028471.1:c.607A>T	XP_016883960.1:p.Ile203Phe
XM_017028472.1:c.331A>T	XP_016883961.1:p.Ile111Phe
XR_937571.2:n.1225A>T
NM_004928.3:c.658A>T MANE Select	NP_004919.1:p.Ile220Phe
NM_001271440.2:c.655A>T	NP_001258369.1:p.Ile219Phe
NM_001271441.2:c.1015A>T	NP_001258370.1:p.Ile339Phe