Canonical Allele Identifier: CA512671081
Gene: CFAP410 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45753109C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44333226C>A , CM000683.2:g.44333226C>A GRCh38
NC_000021.8:g.45753109C>A , CM000683.1:g.45753109C>A GRCh37
NC_000021.7:g.44577537C>A NCBI36
NG_032952.1:g.11177G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000339818.9:c.180G>T MANE Select ENSP00000344566.4:p.Arg60=
ENST00000325223.7:c.180G>T ENSP00000317302.7:p.Arg60=
ENST00000339818.8:c.180G>T ENSP00000344566.4:p.Arg60=
ENST00000397956.7:c.180G>T ENSP00000381047.3:p.Arg60=
ENST00000462742.1:n.2351G>T
ENST00000478674.1:n.239G>T
ENST00000496321.5:n.296G>T
NM_001271440.1:c.180G>T NP_001258369.1:p.Arg60=
NM_001271441.1:c.180G>T NP_001258370.1:p.Arg60=
NM_001271442.1:c.57G>T NP_001258371.1:p.Arg19=
NM_004928.2:c.180G>T NP_004919.1:p.Arg60=
XM_006724051.2:c.255G>T XP_006724114.1:p.Arg85=
XM_006724052.2:c.255G>T XP_006724115.1:p.Arg85=
XM_006724053.2:c.-145G>T XP_006724116.1:n.-145G>T
XR_937571.1:n.383G>T
XM_006724051.3:c.255G>T XP_006724114.1:p.Arg85=
XM_006724053.3:c.-145G>T XP_006724116.1:n.-145G>T
XM_017028470.1:c.384G>T XP_016883959.1:p.Arg128=
XM_017028471.1:c.129G>T XP_016883960.1:p.Arg43=
XM_017028472.1:c.-145G>T XP_016883961.1:n.-145G>T
XR_937571.2:n.390G>T
NM_004928.3:c.180G>T MANE Select NP_004919.1:p.Arg60=
NM_001271440.2:c.180G>T NP_001258369.1:p.Arg60=
NM_001271441.2:c.180G>T NP_001258370.1:p.Arg60=