Canonical Allele Identifier: CA512671074

Gene: CFAP410

Linked Data

• gnomAD v4: 21-44333223-G-A
• MyVariant Identifiers: chr21:g.45753106G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333223G>A , CM000683.2:g.44333223G>A	GRCh38
NC_000021.8:g.45753106G>A , CM000683.1:g.45753106G>A	GRCh37
NC_000021.7:g.44577534G>A	NCBI36
NG_032952.1:g.11180C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.183C>T MANE Select	ENSP00000344566.4:p.Cys61=
ENST00000325223.7:c.183C>T	ENSP00000317302.7:p.Cys61=
ENST00000339818.8:c.183C>T	ENSP00000344566.4:p.Cys61=
ENST00000397956.7:c.183C>T	ENSP00000381047.3:p.Cys61=
ENST00000462742.1:n.2354C>T
ENST00000478674.1:n.242C>T
ENST00000496321.5:n.299C>T
NM_001271440.1:c.183C>T	NP_001258369.1:p.Cys61=
NM_001271441.1:c.183C>T	NP_001258370.1:p.Cys61=
NM_001271442.1:c.60C>T	NP_001258371.1:p.Cys20=
NM_004928.2:c.183C>T	NP_004919.1:p.Cys61=
XM_006724051.2:c.258C>T	XP_006724114.1:p.Cys86=
XM_006724052.2:c.258C>T	XP_006724115.1:p.Cys86=
XM_006724053.2:c.-142C>T	XP_006724116.1:n.-142C>T
XR_937571.1:n.386C>T
XM_006724051.3:c.258C>T	XP_006724114.1:p.Cys86=
XM_006724053.3:c.-142C>T	XP_006724116.1:n.-142C>T
XM_017028470.1:c.387C>T	XP_016883959.1:p.Cys129=
XM_017028471.1:c.132C>T	XP_016883960.1:p.Cys44=
XM_017028472.1:c.-142C>T	XP_016883961.1:n.-142C>T
XR_937571.2:n.393C>T
NM_004928.3:c.183C>T MANE Select	NP_004919.1:p.Cys61=
NM_001271440.2:c.183C>T	NP_001258369.1:p.Cys61=
NM_001271441.2:c.183C>T	NP_001258370.1:p.Cys61=