Canonical Allele Identifier: CA512670823

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 1137901
• ClinVar RCV Id: RCV001474034
• dbSNP Id: rs2047680338
• MyVariant Identifiers: chr21:g.45752923G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333040G>A , CM000683.2:g.44333040G>A	GRCh38
NC_000021.8:g.45752923G>A , CM000683.1:g.45752923G>A	GRCh37
NC_000021.7:g.44577351G>A	NCBI36
NG_032952.1:g.11363C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.366C>T MANE Select	ENSP00000344566.4:p.Asp122=
ENST00000325223.7:c.366C>T	ENSP00000317302.7:p.Asp122=
ENST00000339818.8:c.366C>T	ENSP00000344566.4:p.Asp122=
ENST00000397956.7:c.366C>T	ENSP00000381047.3:p.Asp122=
ENST00000462742.1:n.2537C>T
ENST00000478674.1:n.425C>T
ENST00000496321.5:n.482C>T
NM_001271440.1:c.366C>T	NP_001258369.1:p.Asp122=
NM_001271441.1:c.366C>T	NP_001258370.1:p.Asp122=
NM_001271442.1:c.243C>T	NP_001258371.1:p.Asp81=
NM_004928.2:c.366C>T	NP_004919.1:p.Asp122=
XM_006724051.2:c.441C>T	XP_006724114.1:p.Asp147=
XM_006724052.2:c.441C>T	XP_006724115.1:p.Asp147=
XM_006724053.2:c.42C>T	XP_006724116.1:p.Asp14=
XR_937571.1:n.569C>T
XM_006724051.3:c.441C>T	XP_006724114.1:p.Asp147=
XM_006724053.3:c.42C>T	XP_006724116.1:p.Asp14=
XM_017028470.1:c.570C>T	XP_016883959.1:p.Asp190=
XM_017028471.1:c.315C>T	XP_016883960.1:p.Asp105=
XM_017028472.1:c.42C>T	XP_016883961.1:p.Asp14=
XR_937571.2:n.576C>T
NM_004928.3:c.366C>T MANE Select	NP_004919.1:p.Asp122=
NM_001271440.2:c.366C>T	NP_001258369.1:p.Asp122=
NM_001271441.2:c.366C>T	NP_001258370.1:p.Asp122=