Canonical Allele Identifier: CA410456496

Gene: CFAP410

Linked Data

• gnomAD v4: 21-44333106-G-T
• MyVariant Identifiers: chr21:g.45752989G>T (hg19) ; chr21:g.44333106G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333106G>T , CM000683.2:g.44333106G>T	GRCh38
NC_000021.8:g.45752989G>T , CM000683.1:g.45752989G>T	GRCh37
NC_000021.7:g.44577417G>T	NCBI36
NG_032952.1:g.11297C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.300C>A MANE Select	ENSP00000344566.4:p.Cys100Ter
ENST00000325223.7:c.300C>A	ENSP00000317302.7:p.Cys100Ter
ENST00000339818.8:c.300C>A	ENSP00000344566.4:p.Cys100Ter
ENST00000397956.7:c.300C>A	ENSP00000381047.3:p.Cys100Ter
ENST00000462742.1:n.2471C>A
ENST00000478674.1:n.359C>A
ENST00000496321.5:n.416C>A
NM_001271440.1:c.300C>A	NP_001258369.1:p.Cys100Ter
NM_001271441.1:c.300C>A	NP_001258370.1:p.Cys100Ter
NM_001271442.1:c.177C>A	NP_001258371.1:p.Cys59Ter
NM_004928.2:c.300C>A	NP_004919.1:p.Cys100Ter
XM_006724051.2:c.375C>A	XP_006724114.1:p.Cys125Ter
XM_006724052.2:c.375C>A	XP_006724115.1:p.Cys125Ter
XM_006724053.2:c.-25C>A	XP_006724116.1:n.-25C>A
XR_937571.1:n.503C>A
XM_006724051.3:c.375C>A	XP_006724114.1:p.Cys125Ter
XM_006724053.3:c.-25C>A	XP_006724116.1:n.-25C>A
XM_017028470.1:c.504C>A	XP_016883959.1:p.Cys168Ter
XM_017028471.1:c.249C>A	XP_016883960.1:p.Cys83Ter
XM_017028472.1:c.-25C>A	XP_016883961.1:n.-25C>A
XR_937571.2:n.510C>A
NM_004928.3:c.300C>A MANE Select	NP_004919.1:p.Cys100Ter
NM_001271440.2:c.300C>A	NP_001258369.1:p.Cys100Ter
NM_001271441.2:c.300C>A	NP_001258370.1:p.Cys100Ter