Canonical Allele Identifier: CA10053716

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 428581
• ClinVar RCV Id: RCV003227770
• dbSNP Id: rs922930539
• ExAC: 21:45752942 G / A
• gnomAD v2: 21-45752942-G-A
• gnomAD v3: 21-44333059-G-A
• gnomAD v4: 21-44333059-G-A
• COSMIC: COSM1246774
• MyVariant Identifiers: chr21:g.45752942G>A (hg19) ; chr21:g.45752942_45752954delinsAGCAGGGTGCGCA (hg19) ; chr21:g.44333059G>A (hg38)
• PubMed: PMID:26974433

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333059G>A , CM000683.2:g.44333059G>A	GRCh38
NC_000021.8:g.45752942G>A , CM000683.1:g.45752942G>A	GRCh37
NC_000021.7:g.44577370G>A	NCBI36
NG_032952.1:g.11344C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.347C>T MANE Select	ENSP00000344566.4:p.Pro116Leu
ENST00000325223.7:c.347C>T	ENSP00000317302.7:p.Pro116Leu
ENST00000339818.8:c.347C>T	ENSP00000344566.4:p.Pro116Leu
ENST00000397956.7:c.347C>T	ENSP00000381047.3:p.Pro116Leu
ENST00000462742.1:n.2518C>T
ENST00000478674.1:n.406C>T
ENST00000496321.5:n.463C>T
NM_001271440.1:c.347C>T	NP_001258369.1:p.Pro116Leu
NM_001271441.1:c.347C>T	NP_001258370.1:p.Pro116Leu
NM_001271442.1:c.224C>T	NP_001258371.1:p.Pro75Leu
NM_004928.2:c.347C>T	NP_004919.1:p.Pro116Leu
XM_006724051.2:c.422C>T	XP_006724114.1:p.Pro141Leu
XM_006724052.2:c.422C>T	XP_006724115.1:p.Pro141Leu
XM_006724053.2:c.23C>T	XP_006724116.1:p.Pro8Leu
XR_937571.1:n.550C>T
XM_006724051.3:c.422C>T	XP_006724114.1:p.Pro141Leu
XM_006724053.3:c.23C>T	XP_006724116.1:p.Pro8Leu
XM_017028470.1:c.551C>T	XP_016883959.1:p.Pro184Leu
XM_017028471.1:c.296C>T	XP_016883960.1:p.Pro99Leu
XM_017028472.1:c.23C>T	XP_016883961.1:p.Pro8Leu
XR_937571.2:n.557C>T
NM_004928.3:c.347C>T MANE Select	NP_004919.1:p.Pro116Leu
NM_001271440.2:c.347C>T	NP_001258369.1:p.Pro116Leu
NM_001271441.2:c.347C>T	NP_001258370.1:p.Pro116Leu