Canonical Allele Identifier: CA410457776

Gene: CFAP410

Linked Data

• dbSNP Id: rs952792135
• MyVariant Identifiers: chr21:g.45753145A>C (hg19) ; chr21:g.44333262A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333262A>C , CM000683.2:g.44333262A>C	GRCh38
NC_000021.8:g.45753145A>C , CM000683.1:g.45753145A>C	GRCh37
NC_000021.7:g.44577573A>C	NCBI36
NG_032952.1:g.11141T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.144T>G MANE Select	ENSP00000344566.4:p.Ser48Arg
ENST00000325223.7:c.144T>G	ENSP00000317302.7:p.Ser48Arg
ENST00000339818.8:c.144T>G	ENSP00000344566.4:p.Ser48Arg
ENST00000397956.7:c.144T>G	ENSP00000381047.3:p.Ser48Arg
ENST00000462742.1:n.2315T>G
ENST00000478674.1:n.203T>G
ENST00000496321.5:n.269-9T>G
NM_001271440.1:c.144T>G	NP_001258369.1:p.Ser48Arg
NM_001271441.1:c.144T>G	NP_001258370.1:p.Ser48Arg
NM_001271442.1:c.30-9T>G	NP_001258371.1:n.30-9T>G
NM_004928.2:c.144T>G	NP_004919.1:p.Ser48Arg
XM_006724051.2:c.219T>G	XP_006724114.1:p.Ile73Met
XM_006724052.2:c.219T>G	XP_006724115.1:p.Ile73Met
XM_006724053.2:c.-181T>G	XP_006724116.1:n.-181T>G
XR_937571.1:n.347T>G
XM_006724051.3:c.219T>G	XP_006724114.1:p.Ile73Met
XM_006724053.3:c.-181T>G	XP_006724116.1:n.-181T>G
XM_017028470.1:c.348T>G	XP_016883959.1:p.Ser116Arg
XM_017028471.1:c.93T>G	XP_016883960.1:p.Ile31Met
XM_017028472.1:c.-181T>G	XP_016883961.1:n.-181T>G
XR_937571.2:n.354T>G
NM_004928.3:c.144T>G MANE Select	NP_004919.1:p.Ser48Arg
NM_001271440.2:c.144T>G	NP_001258369.1:p.Ser48Arg
NM_001271441.2:c.144T>G	NP_001258370.1:p.Ser48Arg