Canonical Allele Identifier: CA6246071

Gene: CFAP300

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102081219C>T , CM000673.2:g.102081219C>T	GRCh38
NC_000011.9:g.101951950C>T , CM000673.1:g.101951950C>T	GRCh37
NC_000011.8:g.101457160C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032930.3:c.613C>T MANE Select	NP_116319.2:p.Arg205Ter
ENST00000434758.7:c.613C>T MANE Select	ENSP00000414390.2:p.Arg205Ter
NM_001363505.1:c.604-1852C>T	NP_001350434.1:n.604-1852C>T
NM_001363505.2:c.604-1852C>T	NP_001350434.1:n.604-1852C>T
NM_032930.2:c.613C>T	NP_116319.2:p.Arg205Ter
ENST00000434758.6:c.613C>T	ENSP00000414390.2:p.Arg205Ter
ENST00000526781.5:c.613C>T	ENSP00000433074.1:p.Arg205Ter
ENST00000530659.1:n.850C>T
XM_005271713.2:c.609-1852C>T	XP_005271770.1:n.609-1852C>T
XM_005271713.4:c.609-1852C>T	XP_005271770.1:n.609-1852C>T
XM_006718929.2:c.273C>T	XP_006718992.1:p.Phe91=
XM_017018454.1:c.440C>T	XP_016873943.1:p.Ser147Leu