Canonical Allele Identifier: CA6246076

Gene: CFAP300

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102081286G>A , CM000673.2:g.102081286G>A	GRCh38
NC_000011.9:g.101952017G>A , CM000673.1:g.101952017G>A	GRCh37
NC_000011.8:g.101457227G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032930.3:c.675+5G>A MANE Select	NP_116319.2:n.675+5G>A
ENST00000434758.7:c.675+5G>A MANE Select	ENSP00000414390.2:n.675+5G>A
NM_001363505.1:c.604-1785G>A	NP_001350434.1:n.604-1785G>A
NM_001363505.2:c.604-1785G>A	NP_001350434.1:n.604-1785G>A
NM_032930.2:c.675+5G>A	NP_116319.2:n.675+5G>A
ENST00000434758.6:c.675+5G>A	ENSP00000414390.2:n.675+5G>A
ENST00000526781.5:c.680G>A	ENSP00000433074.1:p.Ser227Asn
ENST00000530659.1:n.912+5G>A
XM_005271713.2:c.609-1785G>A	XP_005271770.1:n.609-1785G>A
XM_005271713.4:c.609-1785G>A	XP_005271770.1:n.609-1785G>A
XM_006718929.2:c.335+5G>A	XP_006718992.1:n.335+5G>A
XM_017018454.1:c.*13+5G>A	XP_016873943.1:n.*13+5G>A