Canonical Allele Identifier: CA2678074180

Gene: CFB

Linked Data

• gnomAD v4: 6-31950726-G-GAT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950726_31950727insAT , CM000668.2:g.31950726_31950727insAT	GRCh38
NC_000006.11:g.31918503_31918504insAT , CM000668.1:g.31918503_31918504insAT	GRCh37
NC_000006.10:g.32026482_32026483insAT	NCBI36
NG_008191.1:g.9783_9784insAT , LRG_136:g.9783_9784insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2124_2125insAT
ENST00000483004.2:c.1516_1517insAT	ENSP00000419887.2:p.Ala506AspfsTer3
ENST00000698628.1:c.1624+323_1624+324insAT	ENSP00000513848.1:n.1624+323_1624+324insAT
ENST00000698629.1:n.1909_1910insAT
ENST00000698630.1:n.2448_2449insAT
ENST00000698631.1:n.2449_2450insAT
ENST00000698632.1:n.3243_3244insAT
ENST00000698633.1:n.3133_3134insAT
ENST00000698636.1:n.1954_1955insAT
ENST00000425368.7:c.1732_1733insAT MANE Select	ENSP00000416561.2:p.Ala578AspfsTer3
ENST00000425368.6:c.1732_1733insAT	ENSP00000416561.2:p.Ala578AspfsTer3
ENST00000456570.5:c.3238_3239insAT	ENSP00000410815.1:p.Ala1080AspfsTer3
ENST00000467360.1:n.858_859insAT
ENST00000477310.1:c.2785_2786insAT	ENSP00000418996.1:p.Ala929AspfsTer3
ENST00000483004.1:c.354_355insAT
NM_001710.5:c.1732_1733insAT , LRG_136t1:c.1732_1733insAT	NP_001701.2:p.Ala578AspfsTer3
NM_001710.6:c.1732_1733insAT MANE Select	NP_001701.2:p.Ala578AspfsTer3