Canonical Allele Identifier: CA321784926

Gene: CFAP410

Linked Data

• dbSNP Id: rs952792135
• gnomAD v2: 21-45753145-A-G
• gnomAD v4: 21-44333262-A-G
• MyVariant Identifiers: chr21:g.45753145A>G (hg19) ; chr21:g.44333262A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333262A>G , CM000683.2:g.44333262A>G	GRCh38
NC_000021.8:g.45753145A>G , CM000683.1:g.45753145A>G	GRCh37
NC_000021.7:g.44577573A>G	NCBI36
NG_032952.1:g.11141T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.144T>C MANE Select	ENSP00000344566.4:p.Ser48=
ENST00000325223.7:c.144T>C	ENSP00000317302.7:p.Ser48=
ENST00000339818.8:c.144T>C	ENSP00000344566.4:p.Ser48=
ENST00000397956.7:c.144T>C	ENSP00000381047.3:p.Ser48=
ENST00000462742.1:n.2315T>C
ENST00000478674.1:n.203T>C
ENST00000496321.5:n.269-9T>C
NM_001271440.1:c.144T>C	NP_001258369.1:p.Ser48=
NM_001271441.1:c.144T>C	NP_001258370.1:p.Ser48=
NM_001271442.1:c.30-9T>C	NP_001258371.1:n.30-9T>C
NM_004928.2:c.144T>C	NP_004919.1:p.Ser48=
XM_006724051.2:c.219T>C	XP_006724114.1:p.Ile73=
XM_006724052.2:c.219T>C	XP_006724115.1:p.Ile73=
XM_006724053.2:c.-181T>C	XP_006724116.1:n.-181T>C
XR_937571.1:n.347T>C
XM_006724051.3:c.219T>C	XP_006724114.1:p.Ile73=
XM_006724053.3:c.-181T>C	XP_006724116.1:n.-181T>C
XM_017028470.1:c.348T>C	XP_016883959.1:p.Ser116=
XM_017028471.1:c.93T>C	XP_016883960.1:p.Ile31=
XM_017028472.1:c.-181T>C	XP_016883961.1:n.-181T>C
XR_937571.2:n.354T>C
NM_004928.3:c.144T>C MANE Select	NP_004919.1:p.Ser48=
NM_001271440.2:c.144T>C	NP_001258369.1:p.Ser48=
NM_001271441.2:c.144T>C	NP_001258370.1:p.Ser48=