Canonical Allele Identifier: CA10053773

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 259585
• ClinVar RCV Id: RCV000251224 ; RCV000953401
• dbSNP Id: rs75087725
• ExAC: 21:45753117 C / A
• gnomAD v2: 21-45753117-C-A
• gnomAD v3: 21-44333234-C-A
• gnomAD v4: 21-44333234-C-A
• MyVariant Identifiers: chr21:g.45753117C>A (hg19) ; chr21:g.44333234C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333234C>A , CM000683.2:g.44333234C>A	GRCh38
NC_000021.8:g.45753117C>A , CM000683.1:g.45753117C>A	GRCh37
NC_000021.7:g.44577545C>A	NCBI36
NG_032952.1:g.11169G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.172G>T MANE Select	ENSP00000344566.4:p.Val58Leu
ENST00000325223.7:c.172G>T	ENSP00000317302.7:p.Val58Leu
ENST00000339818.8:c.172G>T	ENSP00000344566.4:p.Val58Leu
ENST00000397956.7:c.172G>T	ENSP00000381047.3:p.Val58Leu
ENST00000462742.1:n.2343G>T
ENST00000478674.1:n.231G>T
ENST00000496321.5:n.288G>T
NM_001271440.1:c.172G>T	NP_001258369.1:p.Val58Leu
NM_001271441.1:c.172G>T	NP_001258370.1:p.Val58Leu
NM_001271442.1:c.49G>T	NP_001258371.1:p.Val17Leu
NM_004928.2:c.172G>T	NP_004919.1:p.Val58Leu
XM_006724051.2:c.247G>T	XP_006724114.1:p.Val83Leu
XM_006724052.2:c.247G>T	XP_006724115.1:p.Val83Leu
XM_006724053.2:c.-153G>T	XP_006724116.1:n.-153G>T
XR_937571.1:n.375G>T
XM_006724051.3:c.247G>T	XP_006724114.1:p.Val83Leu
XM_006724053.3:c.-153G>T	XP_006724116.1:n.-153G>T
XM_017028470.1:c.376G>T	XP_016883959.1:p.Val126Leu
XM_017028471.1:c.121G>T	XP_016883960.1:p.Val41Leu
XM_017028472.1:c.-153G>T	XP_016883961.1:n.-153G>T
XR_937571.2:n.382G>T
NM_004928.3:c.172G>T MANE Select	NP_004919.1:p.Val58Leu
NM_001271440.2:c.172G>T	NP_001258369.1:p.Val58Leu
NM_001271441.2:c.172G>T	NP_001258370.1:p.Val58Leu