Canonical Allele Identifier: CA512671029
Gene: CFAP410 HGNC NCBI

Linked Data

dbSNP Id: rs1253365455
MyVariant Identifiers: chr21:g.45753079C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44333196C>T , CM000683.2:g.44333196C>T GRCh38
NC_000021.8:g.45753079C>T , CM000683.1:g.45753079C>T GRCh37
NC_000021.7:g.44577507C>T NCBI36
NG_032952.1:g.11207G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000339818.9:c.210G>A MANE Select ENSP00000344566.4:p.Arg70=
ENST00000325223.7:c.210G>A ENSP00000317302.7:p.Arg70=
ENST00000339818.8:c.210G>A ENSP00000344566.4:p.Arg70=
ENST00000397956.7:c.210G>A ENSP00000381047.3:p.Arg70=
ENST00000462742.1:n.2381G>A
ENST00000478674.1:n.269G>A
ENST00000496321.5:n.326G>A
NM_001271440.1:c.210G>A NP_001258369.1:p.Arg70=
NM_001271441.1:c.210G>A NP_001258370.1:p.Arg70=
NM_001271442.1:c.87G>A NP_001258371.1:p.Arg29=
NM_004928.2:c.210G>A NP_004919.1:p.Arg70=
XM_006724051.2:c.285G>A XP_006724114.1:p.Arg95=
XM_006724052.2:c.285G>A XP_006724115.1:p.Arg95=
XM_006724053.2:c.-115G>A XP_006724116.1:n.-115G>A
XR_937571.1:n.413G>A
XM_006724051.3:c.285G>A XP_006724114.1:p.Arg95=
XM_006724053.3:c.-115G>A XP_006724116.1:n.-115G>A
XM_017028470.1:c.414G>A XP_016883959.1:p.Arg138=
XM_017028471.1:c.159G>A XP_016883960.1:p.Arg53=
XM_017028472.1:c.-115G>A XP_016883961.1:n.-115G>A
XR_937571.2:n.420G>A
NM_004928.3:c.210G>A MANE Select NP_004919.1:p.Arg70=
NM_001271440.2:c.210G>A NP_001258369.1:p.Arg70=
NM_001271441.2:c.210G>A NP_001258370.1:p.Arg70=