Canonical Allele Identifier: CA410456206

Gene: CFAP410

Linked Data

• dbSNP Id: rs1459081038
• gnomAD v2: 21-45752933-T-C
• gnomAD v4: 21-44333050-T-C
• MyVariant Identifiers: chr21:g.45752933T>C (hg19) ; chr21:g.44333050T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333050T>C , CM000683.2:g.44333050T>C	GRCh38
NC_000021.8:g.45752933T>C , CM000683.1:g.45752933T>C	GRCh37
NC_000021.7:g.44577361T>C	NCBI36
NG_032952.1:g.11353A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.356A>G MANE Select	ENSP00000344566.4:p.Gln119Arg
ENST00000325223.7:c.356A>G	ENSP00000317302.7:p.Gln119Arg
ENST00000339818.8:c.356A>G	ENSP00000344566.4:p.Gln119Arg
ENST00000397956.7:c.356A>G	ENSP00000381047.3:p.Gln119Arg
ENST00000462742.1:n.2527A>G
ENST00000478674.1:n.415A>G
ENST00000496321.5:n.472A>G
NM_001271440.1:c.356A>G	NP_001258369.1:p.Gln119Arg
NM_001271441.1:c.356A>G	NP_001258370.1:p.Gln119Arg
NM_001271442.1:c.233A>G	NP_001258371.1:p.Gln78Arg
NM_004928.2:c.356A>G	NP_004919.1:p.Gln119Arg
XM_006724051.2:c.431A>G	XP_006724114.1:p.Gln144Arg
XM_006724052.2:c.431A>G	XP_006724115.1:p.Gln144Arg
XM_006724053.2:c.32A>G	XP_006724116.1:p.Gln11Arg
XR_937571.1:n.559A>G
XM_006724051.3:c.431A>G	XP_006724114.1:p.Gln144Arg
XM_006724053.3:c.32A>G	XP_006724116.1:p.Gln11Arg
XM_017028470.1:c.560A>G	XP_016883959.1:p.Gln187Arg
XM_017028471.1:c.305A>G	XP_016883960.1:p.Gln102Arg
XM_017028472.1:c.32A>G	XP_016883961.1:p.Gln11Arg
XR_937571.2:n.566A>G
NM_004928.3:c.356A>G MANE Select	NP_004919.1:p.Gln119Arg
NM_001271440.2:c.356A>G	NP_001258369.1:p.Gln119Arg
NM_001271441.2:c.356A>G	NP_001258370.1:p.Gln119Arg