Canonical Allele Identifier: CA382488837

Gene: CFAP300

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102047879A>T , CM000673.2:g.102047879A>T	GRCh38
NC_000011.9:g.101918610A>T , CM000673.1:g.101918610A>T	GRCh37
NC_000011.8:g.101423820A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032930.3:c.175A>T MANE Select	NP_116319.2:p.Lys59Ter
ENST00000434758.7:c.175A>T MANE Select	ENSP00000414390.2:p.Lys59Ter
NM_001195005.1:c.175A>T	NP_001181934.1:p.Lys59Ter
NM_001195005.2:c.175A>T	NP_001181934.1:p.Lys59Ter
NM_001363505.1:c.175A>T	NP_001350434.1:p.Lys59Ter
NM_001363505.2:c.175A>T	NP_001350434.1:p.Lys59Ter
NM_032930.2:c.175A>T	NP_116319.2:p.Lys59Ter
ENST00000434758.6:c.175A>T	ENSP00000414390.2:p.Lys59Ter
ENST00000526781.5:c.175A>T	ENSP00000433074.1:p.Lys59Ter
ENST00000530659.1:n.412A>T
ENST00000534360.1:c.175A>T	ENSP00000435482.1:p.Lys59Ter
XM_005271713.2:c.175A>T	XP_005271770.1:p.Lys59Ter
XM_005271713.4:c.175A>T	XP_005271770.1:p.Lys59Ter
XM_006718929.2:c.175A>T	XP_006718992.1:p.Lys59Ter
XM_017018454.1:c.175A>T	XP_016873943.1:p.Lys59Ter