Canonical Allele Identifier: CA410448568

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45750194T>G (hg19) ; chr21:g.44330311T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.658A>C MANE Select	ENSP00000344566.4:p.Ile220Leu
ENST00000325223.7:c.655A>C	ENSP00000317302.7:p.Ile219Leu
ENST00000339818.8:c.658A>C	ENSP00000344566.4:p.Ile220Leu
ENST00000397956.7:c.1015A>C	ENSP00000381047.3:p.Ile339Leu
ENST00000462742.1:n.4112A>C
ENST00000470196.5:n.234A>C
ENST00000496321.5:n.771A>C
NM_001271440.1:c.655A>C	NP_001258369.1:p.Ile219Leu
NM_001271441.1:c.1015A>C	NP_001258370.1:p.Ile339Leu
NM_001271442.1:c.532A>C	NP_001258371.1:p.Ile178Leu
NM_004928.2:c.658A>C	NP_004919.1:p.Ile220Leu
XM_006724051.2:c.733A>C	XP_006724114.1:p.Ile245Leu
XM_006724052.2:c.730A>C	XP_006724115.1:p.Ile244Leu
XM_006724053.2:c.334A>C	XP_006724116.1:p.Ile112Leu
XR_937571.1:n.1218A>C
XM_006724051.3:c.733A>C	XP_006724114.1:p.Ile245Leu
XM_006724053.3:c.334A>C	XP_006724116.1:p.Ile112Leu
XM_017028470.1:c.859A>C	XP_016883959.1:p.Ile287Leu
XM_017028471.1:c.607A>C	XP_016883960.1:p.Ile203Leu
XM_017028472.1:c.331A>C	XP_016883961.1:p.Ile111Leu
XR_937571.2:n.1225A>C
NM_004928.3:c.658A>C MANE Select	NP_004919.1:p.Ile220Leu
NM_001271440.2:c.655A>C	NP_001258369.1:p.Ile219Leu
NM_001271441.2:c.1015A>C	NP_001258370.1:p.Ile339Leu