Canonical Allele Identifier: CA410456612

Gene: CFAP410

Linked Data

• dbSNP Id: rs201576990
• gnomAD v2: 21-45752997-G-T
• gnomAD v4: 21-44333114-G-T
• MyVariant Identifiers: chr21:g.45752997G>T (hg19) ; chr21:g.44333114G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333114G>T , CM000683.2:g.44333114G>T	GRCh38
NC_000021.8:g.45752997G>T , CM000683.1:g.45752997G>T	GRCh37
NC_000021.7:g.44577425G>T	NCBI36
NG_032952.1:g.11289C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.292C>A MANE Select	ENSP00000344566.4:p.Pro98Thr
ENST00000325223.7:c.292C>A	ENSP00000317302.7:p.Pro98Thr
ENST00000339818.8:c.292C>A	ENSP00000344566.4:p.Pro98Thr
ENST00000397956.7:c.292C>A	ENSP00000381047.3:p.Pro98Thr
ENST00000462742.1:n.2463C>A
ENST00000478674.1:n.351C>A
ENST00000496321.5:n.408C>A
NM_001271440.1:c.292C>A	NP_001258369.1:p.Pro98Thr
NM_001271441.1:c.292C>A	NP_001258370.1:p.Pro98Thr
NM_001271442.1:c.169C>A	NP_001258371.1:p.Pro57Thr
NM_004928.2:c.292C>A	NP_004919.1:p.Pro98Thr
XM_006724051.2:c.367C>A	XP_006724114.1:p.Pro123Thr
XM_006724052.2:c.367C>A	XP_006724115.1:p.Pro123Thr
XM_006724053.2:c.-33C>A	XP_006724116.1:n.-33C>A
XR_937571.1:n.495C>A
XM_006724051.3:c.367C>A	XP_006724114.1:p.Pro123Thr
XM_006724053.3:c.-33C>A	XP_006724116.1:n.-33C>A
XM_017028470.1:c.496C>A	XP_016883959.1:p.Pro166Thr
XM_017028471.1:c.241C>A	XP_016883960.1:p.Pro81Thr
XM_017028472.1:c.-33C>A	XP_016883961.1:n.-33C>A
XR_937571.2:n.502C>A
NM_004928.3:c.292C>A MANE Select	NP_004919.1:p.Pro98Thr
NM_001271440.2:c.292C>A	NP_001258369.1:p.Pro98Thr
NM_001271441.2:c.292C>A	NP_001258370.1:p.Pro98Thr