Canonical Allele Identifier: CA6246120

Gene: CFAP300

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102083171A>G , CM000673.2:g.102083171A>G	GRCh38
NC_000011.9:g.101953902A>G , CM000673.1:g.101953902A>G	GRCh37
NC_000011.8:g.101459112A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032930.3:c.776A>G MANE Select	NP_116319.2:p.His259Arg
ENST00000434758.7:c.776A>G MANE Select	ENSP00000414390.2:p.His259Arg
NM_001363505.1:c.704A>G	NP_001350434.1:p.His235Arg
NM_001363505.2:c.704A>G	NP_001350434.1:p.His235Arg
NM_032930.2:c.776A>G	NP_116319.2:p.His259Arg
ENST00000434758.6:c.776A>G	ENSP00000414390.2:p.His259Arg
ENST00000530659.1:n.1013A>G
XM_005271713.2:c.709A>G	XP_005271770.1:p.Thr237Ala
XM_005271713.4:c.709A>G	XP_005271770.1:p.Thr237Ala
XM_006718929.2:c.436A>G	XP_006718992.1:p.Thr146Ala
XM_017018454.1:c.*114A>G	XP_016873943.1:n.*114A>G