Canonical Allele Identifier: CA410448534

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45750182G>C (hg19) ; chr21:g.44330299G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.670C>G MANE Select	ENSP00000344566.4:p.Leu224Val
ENST00000325223.7:c.667C>G	ENSP00000317302.7:p.Leu223Val
ENST00000339818.8:c.670C>G	ENSP00000344566.4:p.Leu224Val
ENST00000397956.7:c.1027C>G	ENSP00000381047.3:p.Leu343Val
ENST00000462742.1:n.4124C>G
ENST00000470196.5:n.246C>G
ENST00000496321.5:n.783C>G
NM_001271440.1:c.667C>G	NP_001258369.1:p.Leu223Val
NM_001271441.1:c.1027C>G	NP_001258370.1:p.Leu343Val
NM_001271442.1:c.544C>G	NP_001258371.1:p.Leu182Val
NM_004928.2:c.670C>G	NP_004919.1:p.Leu224Val
XM_006724051.2:c.745C>G	XP_006724114.1:p.Leu249Val
XM_006724052.2:c.742C>G	XP_006724115.1:p.Leu248Val
XM_006724053.2:c.346C>G	XP_006724116.1:p.Leu116Val
XR_937571.1:n.1230C>G
XM_006724051.3:c.745C>G	XP_006724114.1:p.Leu249Val
XM_006724053.3:c.346C>G	XP_006724116.1:p.Leu116Val
XM_017028470.1:c.871C>G	XP_016883959.1:p.Leu291Val
XM_017028471.1:c.619C>G	XP_016883960.1:p.Leu207Val
XM_017028472.1:c.343C>G	XP_016883961.1:p.Leu115Val
XR_937571.2:n.1237C>G
NM_004928.3:c.670C>G MANE Select	NP_004919.1:p.Leu224Val
NM_001271440.2:c.667C>G	NP_001258369.1:p.Leu223Val
NM_001271441.2:c.1027C>G	NP_001258370.1:p.Leu343Val