Canonical Allele Identifier: CA512670543

Gene: CFAP410

Linked Data

• dbSNP Id: rs1354050897
• gnomAD v3: 21-44332858-G-A
• gnomAD v4: 21-44332858-G-A
• MyVariant Identifiers: chr21:g.45752741G>A (hg19) ; chr21:g.44332858G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44332858G>A , CM000683.2:g.44332858G>A	GRCh38
NC_000021.8:g.45752741G>A , CM000683.1:g.45752741G>A	GRCh37
NC_000021.7:g.44577169G>A	NCBI36
NG_032952.1:g.11545C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.373+175C>T MANE Select	ENSP00000344566.4:n.373+175C>T
ENST00000325223.7:c.373+175C>T	ENSP00000317302.7:n.373+175C>T
ENST00000339818.8:c.373+175C>T	ENSP00000344566.4:n.373+175C>T
ENST00000397956.7:c.373+175C>T	ENSP00000381047.3:n.373+175C>T
ENST00000462742.1:n.2544+175C>T
ENST00000478674.1:n.432+175C>T
ENST00000496321.5:n.489+175C>T
NM_001271440.1:c.373+175C>T	NP_001258369.1:n.373+175C>T
NM_001271441.1:c.373+175C>T	NP_001258370.1:n.373+175C>T
NM_001271442.1:c.250+175C>T	NP_001258371.1:n.250+175C>T
NM_004928.2:c.373+175C>T	NP_004919.1:n.373+175C>T
XM_006724051.2:c.448+175C>T	XP_006724114.1:n.448+175C>T
XM_006724052.2:c.448+175C>T	XP_006724115.1:n.448+175C>T
XM_006724053.2:c.49+175C>T	XP_006724116.1:n.49+175C>T
XR_937571.1:n.576+175C>T
XM_006724051.3:c.448+175C>T	XP_006724114.1:n.448+175C>T
XM_006724053.3:c.49+175C>T	XP_006724116.1:n.49+175C>T
XM_017028470.1:c.577+175C>T	XP_016883959.1:n.577+175C>T
XM_017028471.1:c.322+175C>T	XP_016883960.1:n.322+175C>T
XM_017028472.1:c.49+175C>T	XP_016883961.1:n.49+175C>T
XR_937571.2:n.583+175C>T
NM_004928.3:c.373+175C>T MANE Select	NP_004919.1:n.373+175C>T
NM_001271440.2:c.373+175C>T	NP_001258369.1:n.373+175C>T
NM_001271441.2:c.373+175C>T	NP_001258370.1:n.373+175C>T