Canonical Allele Identifier: CA410457469

Gene: CFAP410

Linked Data

• gnomAD v4: 21-44333219-G-T
• MyVariant Identifiers: chr21:g.45753102G>T (hg19) ; chr21:g.44333219G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333219G>T , CM000683.2:g.44333219G>T	GRCh38
NC_000021.8:g.45753102G>T , CM000683.1:g.45753102G>T	GRCh37
NC_000021.7:g.44577530G>T	NCBI36
NG_032952.1:g.11184C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.187C>A MANE Select	ENSP00000344566.4:p.Arg63Ser
ENST00000325223.7:c.187C>A	ENSP00000317302.7:p.Arg63Ser
ENST00000339818.8:c.187C>A	ENSP00000344566.4:p.Arg63Ser
ENST00000397956.7:c.187C>A	ENSP00000381047.3:p.Arg63Ser
ENST00000462742.1:n.2358C>A
ENST00000478674.1:n.246C>A
ENST00000496321.5:n.303C>A
NM_001271440.1:c.187C>A	NP_001258369.1:p.Arg63Ser
NM_001271441.1:c.187C>A	NP_001258370.1:p.Arg63Ser
NM_001271442.1:c.64C>A	NP_001258371.1:p.Arg22Ser
NM_004928.2:c.187C>A	NP_004919.1:p.Arg63Ser
XM_006724051.2:c.262C>A	XP_006724114.1:p.Arg88Ser
XM_006724052.2:c.262C>A	XP_006724115.1:p.Arg88Ser
XM_006724053.2:c.-138C>A	XP_006724116.1:n.-138C>A
XR_937571.1:n.390C>A
XM_006724051.3:c.262C>A	XP_006724114.1:p.Arg88Ser
XM_006724053.3:c.-138C>A	XP_006724116.1:n.-138C>A
XM_017028470.1:c.391C>A	XP_016883959.1:p.Arg131Ser
XM_017028471.1:c.136C>A	XP_016883960.1:p.Arg46Ser
XM_017028472.1:c.-138C>A	XP_016883961.1:n.-138C>A
XR_937571.2:n.397C>A
NM_004928.3:c.187C>A MANE Select	NP_004919.1:p.Arg63Ser
NM_001271440.2:c.187C>A	NP_001258369.1:p.Arg63Ser
NM_001271441.2:c.187C>A	NP_001258370.1:p.Arg63Ser