Canonical Allele Identifier: CA321784666

Gene: CFAP410

Linked Data

• dbSNP Id: rs756411168
• gnomAD v4: 21-44332847-T-G
• MyVariant Identifiers: chr21:g.45752730T>G (hg19) ; chr21:g.44332847T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44332847T>G , CM000683.2:g.44332847T>G	GRCh38
NC_000021.8:g.45752730T>G , CM000683.1:g.45752730T>G	GRCh37
NC_000021.7:g.44577158T>G	NCBI36
NG_032952.1:g.11556A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.373+186A>C MANE Select	ENSP00000344566.4:n.373+186A>C
ENST00000325223.7:c.373+186A>C	ENSP00000317302.7:n.373+186A>C
ENST00000339818.8:c.373+186A>C	ENSP00000344566.4:n.373+186A>C
ENST00000397956.7:c.373+186A>C	ENSP00000381047.3:n.373+186A>C
ENST00000462742.1:n.2544+186A>C
ENST00000478674.1:n.432+186A>C
ENST00000496321.5:n.489+186A>C
NM_001271440.1:c.373+186A>C	NP_001258369.1:n.373+186A>C
NM_001271441.1:c.373+186A>C	NP_001258370.1:n.373+186A>C
NM_001271442.1:c.250+186A>C	NP_001258371.1:n.250+186A>C
NM_004928.2:c.373+186A>C	NP_004919.1:n.373+186A>C
XM_006724051.2:c.448+186A>C	XP_006724114.1:n.448+186A>C
XM_006724052.2:c.448+186A>C	XP_006724115.1:n.448+186A>C
XM_006724053.2:c.49+186A>C	XP_006724116.1:n.49+186A>C
XR_937571.1:n.576+186A>C
XM_006724051.3:c.448+186A>C	XP_006724114.1:n.448+186A>C
XM_006724053.3:c.49+186A>C	XP_006724116.1:n.49+186A>C
XM_017028470.1:c.577+186A>C	XP_016883959.1:n.577+186A>C
XM_017028471.1:c.322+186A>C	XP_016883960.1:n.322+186A>C
XM_017028472.1:c.49+186A>C	XP_016883961.1:n.49+186A>C
XR_937571.2:n.583+186A>C
NM_004928.3:c.373+186A>C MANE Select	NP_004919.1:n.373+186A>C
NM_001271440.2:c.373+186A>C	NP_001258369.1:n.373+186A>C
NM_001271441.2:c.373+186A>C	NP_001258370.1:n.373+186A>C