Canonical Allele Identifier: CA6246001

Gene: CFAP300

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102066649A>T , CM000673.2:g.102066649A>T	GRCh38
NC_000011.9:g.101937380A>T , CM000673.1:g.101937380A>T	GRCh37
NC_000011.8:g.101442590A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032930.3:c.433A>T MANE Select	NP_116319.2:p.Arg145Ter
ENST00000434758.7:c.433A>T MANE Select	ENSP00000414390.2:p.Arg145Ter
NM_001195005.1:c.268+7694A>T	NP_001181934.1:n.268+7694A>T
NM_001195005.2:c.268+7694A>T	NP_001181934.1:n.268+7694A>T
NM_001363505.1:c.433A>T	NP_001350434.1:p.Arg145Ter
NM_001363505.2:c.433A>T	NP_001350434.1:p.Arg145Ter
NM_032930.2:c.433A>T	NP_116319.2:p.Arg145Ter
ENST00000434758.6:c.433A>T	ENSP00000414390.2:p.Arg145Ter
ENST00000526781.5:c.433A>T	ENSP00000433074.1:p.Arg145Ter
ENST00000529204.1:c.108A>T
ENST00000530659.1:n.670A>T
ENST00000534360.1:c.268+7694A>T	ENSP00000435482.1:n.268+7694A>T
XM_005271713.2:c.433A>T	XP_005271770.1:p.Arg145Ter
XM_005271713.4:c.433A>T	XP_005271770.1:p.Arg145Ter
XM_006718929.2:c.268+7694A>T	XP_006718992.1:n.268+7694A>T
XM_017018454.1:c.433A>T	XP_016873943.1:p.Arg145Ter