Canonical Allele Identifier: CA10053771

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 1467342
• ClinVar RCV Id: RCV001970385
• dbSNP Id: rs200049699
• ExAC: 21:45753111 G / A
• gnomAD v2: 21-45753111-G-A
• gnomAD v3: 21-44333228-G-A
• gnomAD v4: 21-44333228-G-A
• MyVariant Identifiers: chr21:g.45753111G>A (hg19) ; chr21:g.44333228G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333228G>A , CM000683.2:g.44333228G>A	GRCh38
NC_000021.8:g.45753111G>A , CM000683.1:g.45753111G>A	GRCh37
NC_000021.7:g.44577539G>A	NCBI36
NG_032952.1:g.11175C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.178C>T MANE Select	ENSP00000344566.4:p.Arg60Trp
ENST00000325223.7:c.178C>T	ENSP00000317302.7:p.Arg60Trp
ENST00000339818.8:c.178C>T	ENSP00000344566.4:p.Arg60Trp
ENST00000397956.7:c.178C>T	ENSP00000381047.3:p.Arg60Trp
ENST00000462742.1:n.2349C>T
ENST00000478674.1:n.237C>T
ENST00000496321.5:n.294C>T
NM_001271440.1:c.178C>T	NP_001258369.1:p.Arg60Trp
NM_001271441.1:c.178C>T	NP_001258370.1:p.Arg60Trp
NM_001271442.1:c.55C>T	NP_001258371.1:p.Arg19Trp
NM_004928.2:c.178C>T	NP_004919.1:p.Arg60Trp
XM_006724051.2:c.253C>T	XP_006724114.1:p.Arg85Trp
XM_006724052.2:c.253C>T	XP_006724115.1:p.Arg85Trp
XM_006724053.2:c.-147C>T	XP_006724116.1:n.-147C>T
XR_937571.1:n.381C>T
XM_006724051.3:c.253C>T	XP_006724114.1:p.Arg85Trp
XM_006724053.3:c.-147C>T	XP_006724116.1:n.-147C>T
XM_017028470.1:c.382C>T	XP_016883959.1:p.Arg128Trp
XM_017028471.1:c.127C>T	XP_016883960.1:p.Arg43Trp
XM_017028472.1:c.-147C>T	XP_016883961.1:n.-147C>T
XR_937571.2:n.388C>T
NM_004928.3:c.178C>T MANE Select	NP_004919.1:p.Arg60Trp
NM_001271440.2:c.178C>T	NP_001258369.1:p.Arg60Trp
NM_001271441.2:c.178C>T	NP_001258370.1:p.Arg60Trp