Canonical Allele Identifier: CA6245999

Gene: CFAP300

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102066646C>T , CM000673.2:g.102066646C>T	GRCh38
NC_000011.9:g.101937377C>T , CM000673.1:g.101937377C>T	GRCh37
NC_000011.8:g.101442587C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032930.3:c.430C>T MANE Select	NP_116319.2:p.Arg144Ter
ENST00000434758.7:c.430C>T MANE Select	ENSP00000414390.2:p.Arg144Ter
NM_001195005.1:c.268+7691C>T	NP_001181934.1:n.268+7691C>T
NM_001195005.2:c.268+7691C>T	NP_001181934.1:n.268+7691C>T
NM_001363505.1:c.430C>T	NP_001350434.1:p.Arg144Ter
NM_001363505.2:c.430C>T	NP_001350434.1:p.Arg144Ter
NM_032930.2:c.430C>T	NP_116319.2:p.Arg144Ter
ENST00000434758.6:c.430C>T	ENSP00000414390.2:p.Arg144Ter
ENST00000526781.5:c.430C>T	ENSP00000433074.1:p.Arg144Ter
ENST00000529204.1:c.105C>T
ENST00000530659.1:n.667C>T
ENST00000534360.1:c.268+7691C>T	ENSP00000435482.1:n.268+7691C>T
XM_005271713.2:c.430C>T	XP_005271770.1:p.Arg144Ter
XM_005271713.4:c.430C>T	XP_005271770.1:p.Arg144Ter
XM_006718929.2:c.268+7691C>T	XP_006718992.1:n.268+7691C>T
XM_017018454.1:c.430C>T	XP_016873943.1:p.Arg144Ter