Canonical Allele Identifier: CA410456139

Gene: CFAP410

Linked Data

• dbSNP Id: rs2047680180
• gnomAD v4: 21-44333035-T-C
• MyVariant Identifiers: chr21:g.45752918T>C (hg19) ; chr21:g.44333035T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333035T>C , CM000683.2:g.44333035T>C	GRCh38
NC_000021.8:g.45752918T>C , CM000683.1:g.45752918T>C	GRCh37
NC_000021.7:g.44577346T>C	NCBI36
NG_032952.1:g.11368A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.371A>G MANE Select	ENSP00000344566.4:p.Gln124Arg
ENST00000325223.7:c.371A>G	ENSP00000317302.7:p.Gln124Arg
ENST00000339818.8:c.371A>G	ENSP00000344566.4:p.Gln124Arg
ENST00000397956.7:c.371A>G	ENSP00000381047.3:p.Gln124Arg
ENST00000462742.1:n.2542A>G
ENST00000478674.1:n.430A>G
ENST00000496321.5:n.487A>G
NM_001271440.1:c.371A>G	NP_001258369.1:p.Gln124Arg
NM_001271441.1:c.371A>G	NP_001258370.1:p.Gln124Arg
NM_001271442.1:c.248A>G	NP_001258371.1:p.Gln83Arg
NM_004928.2:c.371A>G	NP_004919.1:p.Gln124Arg
XM_006724051.2:c.446A>G	XP_006724114.1:p.Gln149Arg
XM_006724052.2:c.446A>G	XP_006724115.1:p.Gln149Arg
XM_006724053.2:c.47A>G	XP_006724116.1:p.Gln16Arg
XR_937571.1:n.574A>G
XM_006724051.3:c.446A>G	XP_006724114.1:p.Gln149Arg
XM_006724053.3:c.47A>G	XP_006724116.1:p.Gln16Arg
XM_017028470.1:c.575A>G	XP_016883959.1:p.Gln192Arg
XM_017028471.1:c.320A>G	XP_016883960.1:p.Gln107Arg
XM_017028472.1:c.47A>G	XP_016883961.1:p.Gln16Arg
XR_937571.2:n.581A>G
NM_004928.3:c.371A>G MANE Select	NP_004919.1:p.Gln124Arg
NM_001271440.2:c.371A>G	NP_001258369.1:p.Gln124Arg
NM_001271441.2:c.371A>G	NP_001258370.1:p.Gln124Arg