Canonical Allele Identifier: CA10053720

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 1093181
• ClinVar RCV Id: RCV001413263
• dbSNP Id: rs745430992
• ExAC: 21:45752950 G / A
• gnomAD v2: 21-45752950-G-A
• gnomAD v3: 21-44333067-G-A
• gnomAD v4: 21-44333067-G-A
• MyVariant Identifiers: chr21:g.45752950G>A (hg19) ; chr21:g.44333067G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333067G>A , CM000683.2:g.44333067G>A	GRCh38
NC_000021.8:g.45752950G>A , CM000683.1:g.45752950G>A	GRCh37
NC_000021.7:g.44577378G>A	NCBI36
NG_032952.1:g.11336C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.339C>T MANE Select	ENSP00000344566.4:p.Arg113=
ENST00000325223.7:c.339C>T	ENSP00000317302.7:p.Arg113=
ENST00000339818.8:c.339C>T	ENSP00000344566.4:p.Arg113=
ENST00000397956.7:c.339C>T	ENSP00000381047.3:p.Arg113=
ENST00000462742.1:n.2510C>T
ENST00000478674.1:n.398C>T
ENST00000496321.5:n.455C>T
NM_001271440.1:c.339C>T	NP_001258369.1:p.Arg113=
NM_001271441.1:c.339C>T	NP_001258370.1:p.Arg113=
NM_001271442.1:c.216C>T	NP_001258371.1:p.Arg72=
NM_004928.2:c.339C>T	NP_004919.1:p.Arg113=
XM_006724051.2:c.414C>T	XP_006724114.1:p.Arg138=
XM_006724052.2:c.414C>T	XP_006724115.1:p.Arg138=
XM_006724053.2:c.15C>T	XP_006724116.1:p.Arg5=
XR_937571.1:n.542C>T
XM_006724051.3:c.414C>T	XP_006724114.1:p.Arg138=
XM_006724053.3:c.15C>T	XP_006724116.1:p.Arg5=
XM_017028470.1:c.543C>T	XP_016883959.1:p.Arg181=
XM_017028471.1:c.288C>T	XP_016883960.1:p.Arg96=
XM_017028472.1:c.15C>T	XP_016883961.1:p.Arg5=
XR_937571.2:n.549C>T
NM_004928.3:c.339C>T MANE Select	NP_004919.1:p.Arg113=
NM_001271440.2:c.339C>T	NP_001258369.1:p.Arg113=
NM_001271441.2:c.339C>T	NP_001258370.1:p.Arg113=