Canonical Allele Identifier: CA410457112

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 1052379
• ClinVar RCV Id: RCV001360547
• dbSNP Id: rs2146069079
• MyVariant Identifiers: chr21:g.45753057C>G (hg19) ; chr21:g.44333174C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333174C>G , CM000683.2:g.44333174C>G	GRCh38
NC_000021.8:g.45753057C>G , CM000683.1:g.45753057C>G	GRCh37
NC_000021.7:g.44577485C>G	NCBI36
NG_032952.1:g.11229G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.232G>C MANE Select	ENSP00000344566.4:p.Ala78Pro
ENST00000325223.7:c.232G>C	ENSP00000317302.7:p.Ala78Pro
ENST00000339818.8:c.232G>C	ENSP00000344566.4:p.Ala78Pro
ENST00000397956.7:c.232G>C	ENSP00000381047.3:p.Ala78Pro
ENST00000462742.1:n.2403G>C
ENST00000478674.1:n.291G>C
ENST00000496321.5:n.348G>C
NM_001271440.1:c.232G>C	NP_001258369.1:p.Ala78Pro
NM_001271441.1:c.232G>C	NP_001258370.1:p.Ala78Pro
NM_001271442.1:c.109G>C	NP_001258371.1:p.Ala37Pro
NM_004928.2:c.232G>C	NP_004919.1:p.Ala78Pro
XM_006724051.2:c.307G>C	XP_006724114.1:p.Ala103Pro
XM_006724052.2:c.307G>C	XP_006724115.1:p.Ala103Pro
XM_006724053.2:c.-93G>C	XP_006724116.1:n.-93G>C
XR_937571.1:n.435G>C
XM_006724051.3:c.307G>C	XP_006724114.1:p.Ala103Pro
XM_006724053.3:c.-93G>C	XP_006724116.1:n.-93G>C
XM_017028470.1:c.436G>C	XP_016883959.1:p.Ala146Pro
XM_017028471.1:c.181G>C	XP_016883960.1:p.Ala61Pro
XM_017028472.1:c.-93G>C	XP_016883961.1:n.-93G>C
XR_937571.2:n.442G>C
NM_004928.3:c.232G>C MANE Select	NP_004919.1:p.Ala78Pro
NM_001271440.2:c.232G>C	NP_001258369.1:p.Ala78Pro
NM_001271441.2:c.232G>C	NP_001258370.1:p.Ala78Pro