Canonical Allele Identifier: CA512670475

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 1614161
• ClinVar RCV Id: RCV002183371
• dbSNP Id: rs1159707287
• gnomAD v4: 21-44330300-C-G
• MyVariant Identifiers: chr21:g.45750183C>G (hg19) ; chr21:g.44330300C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44330300C>G , CM000683.2:g.44330300C>G	GRCh38
NC_000021.8:g.45750183C>G , CM000683.1:g.45750183C>G	GRCh37
NC_000021.7:g.44574611C>G	NCBI36
NG_032952.1:g.14103G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.669G>C MANE Select	ENSP00000344566.4:p.Leu223=
ENST00000325223.7:c.666G>C	ENSP00000317302.7:p.Leu222=
ENST00000339818.8:c.669G>C	ENSP00000344566.4:p.Leu223=
ENST00000397956.7:c.1026G>C	ENSP00000381047.3:p.Leu342=
ENST00000462742.1:n.4123G>C
ENST00000470196.5:n.245G>C
ENST00000496321.5:n.782G>C
NM_001271440.1:c.666G>C	NP_001258369.1:p.Leu222=
NM_001271441.1:c.1026G>C	NP_001258370.1:p.Leu342=
NM_001271442.1:c.543G>C	NP_001258371.1:p.Leu181=
NM_004928.2:c.669G>C	NP_004919.1:p.Leu223=
XM_006724051.2:c.744G>C	XP_006724114.1:p.Leu248=
XM_006724052.2:c.741G>C	XP_006724115.1:p.Leu247=
XM_006724053.2:c.345G>C	XP_006724116.1:p.Leu115=
XR_937571.1:n.1229G>C
XM_006724051.3:c.744G>C	XP_006724114.1:p.Leu248=
XM_006724053.3:c.345G>C	XP_006724116.1:p.Leu115=
XM_017028470.1:c.870G>C	XP_016883959.1:p.Leu290=
XM_017028471.1:c.618G>C	XP_016883960.1:p.Leu206=
XM_017028472.1:c.342G>C	XP_016883961.1:p.Leu114=
XR_937571.2:n.1236G>C
NM_004928.3:c.669G>C MANE Select	NP_004919.1:p.Leu223=
NM_001271440.2:c.666G>C	NP_001258369.1:p.Leu222=
NM_001271441.2:c.1026G>C	NP_001258370.1:p.Leu342=