Canonical Allele Identifier: CA1619374821

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946558_31946559delinsAC , CM000668.2:g.31946558_31946559delinsAC	GRCh38
NC_000006.11:g.31914335_31914336delinsAC , CM000668.1:g.31914335_31914336delinsAC	GRCh37
NC_000006.10:g.32022314_32022315delinsAC	NCBI36
NG_008191.1:g.5615_5616delinsAC , LRG_136:g.5615_5616delinsAC
NG_011730.1:g.24070_24071delinsAC , LRG_26:g.24070_24071delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.427_428delinsAC
ENST00000483004.2:c.250_251delinsAC	ENSP00000419887.2:p.Thr84=
ENST00000497841.6:c.250_251delinsAC	ENSP00000513847.1:p.Thr84=
ENST00000698628.1:c.250_251delinsAC	ENSP00000513848.1:p.Thr84=
ENST00000698629.1:n.427_428delinsAC
ENST00000698630.1:n.411_412delinsAC
ENST00000698631.1:n.406_407delinsAC
ENST00000698632.1:n.378_379delinsAC
ENST00000698633.1:n.348_349delinsAC
ENST00000698636.1:n.472_473delinsAC
ENST00000425368.7:c.250_251delinsAC MANE Select	ENSP00000416561.2:p.Thr84=
ENST00000425368.6:c.250_251delinsAC	ENSP00000416561.2:p.Thr84=
ENST00000452035.6:n.250_251delinsAC
ENST00000456570.5:c.1756_1757delinsAC	ENSP00000410815.1:p.Thr586=
ENST00000460718.5:c.137_138delinsAC	ENSP00000417793.1:p.His46=
ENST00000472581.1:n.497_498delinsAC
ENST00000475617.5:c.250_251delinsAC	ENSP00000420090.1:p.Thr84=
ENST00000477310.1:c.1352-449_1352-448delinsAC	ENSP00000418996.1:n.1352-449_1352-448delinsAC
NM_001710.5:c.250_251delinsAC , LRG_136t1:c.250_251delinsAC	NP_001701.2:p.Thr84=
NM_001710.6:c.250_251delinsAC MANE Select	NP_001701.2:p.Thr84=