Canonical Allele Identifier: CA410457420

Gene: CFAP410

Linked Data

• gnomAD v4: 21-44333212-C-T
• MyVariant Identifiers: chr21:g.45753095C>T (hg19) ; chr21:g.44333212C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333212C>T , CM000683.2:g.44333212C>T	GRCh38
NC_000021.8:g.45753095C>T , CM000683.1:g.45753095C>T	GRCh37
NC_000021.7:g.44577523C>T	NCBI36
NG_032952.1:g.11191G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.194G>A MANE Select	ENSP00000344566.4:p.Ser65Asn
ENST00000325223.7:c.194G>A	ENSP00000317302.7:p.Ser65Asn
ENST00000339818.8:c.194G>A	ENSP00000344566.4:p.Ser65Asn
ENST00000397956.7:c.194G>A	ENSP00000381047.3:p.Ser65Asn
ENST00000462742.1:n.2365G>A
ENST00000478674.1:n.253G>A
ENST00000496321.5:n.310G>A
NM_001271440.1:c.194G>A	NP_001258369.1:p.Ser65Asn
NM_001271441.1:c.194G>A	NP_001258370.1:p.Ser65Asn
NM_001271442.1:c.71G>A	NP_001258371.1:p.Ser24Asn
NM_004928.2:c.194G>A	NP_004919.1:p.Ser65Asn
XM_006724051.2:c.269G>A	XP_006724114.1:p.Ser90Asn
XM_006724052.2:c.269G>A	XP_006724115.1:p.Ser90Asn
XM_006724053.2:c.-131G>A	XP_006724116.1:n.-131G>A
XR_937571.1:n.397G>A
XM_006724051.3:c.269G>A	XP_006724114.1:p.Ser90Asn
XM_006724053.3:c.-131G>A	XP_006724116.1:n.-131G>A
XM_017028470.1:c.398G>A	XP_016883959.1:p.Ser133Asn
XM_017028471.1:c.143G>A	XP_016883960.1:p.Ser48Asn
XM_017028472.1:c.-131G>A	XP_016883961.1:n.-131G>A
XR_937571.2:n.404G>A
NM_004928.3:c.194G>A MANE Select	NP_004919.1:p.Ser65Asn
NM_001271440.2:c.194G>A	NP_001258369.1:p.Ser65Asn
NM_001271441.2:c.194G>A	NP_001258370.1:p.Ser65Asn