Canonical Allele Identifier: CA2678074510

Gene: CFB

Linked Data

• gnomAD v4: 6-31951118-T-TCTTCCTCTGGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951118_31951119insCTTCCTCTGGAC , CM000668.2:g.31951118_31951119insCTTCCTCTGGAC	GRCh38
NC_000006.11:g.31918895_31918896insCTTCCTCTGGAC , CM000668.1:g.31918895_31918896insCTTCCTCTGGAC	GRCh37
NC_000006.10:g.32026874_32026875insCTTCCTCTGGAC	NCBI36
NG_008191.1:g.10175_10176insCTTCCTCTGGAC , LRG_136:g.10175_10176insCTTCCTCTGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2343-79_2343-78insCTTCCTCTGGAC
ENST00000483004.2:c.1640-26_1640-25insCTTCCTCTGGAC	ENSP00000419887.2:n.1640-26_1640-25insCTTCCTCTGGAC
ENST00000698628.1:c.1625-26_1625-25insCTTCCTCTGGAC	ENSP00000513848.1:n.1625-26_1625-25insCTTCCTCTGGAC
ENST00000698629.1:n.2128-79_2128-78insCTTCCTCTGGAC
ENST00000698630.1:n.2572-26_2572-25insCTTCCTCTGGAC
ENST00000698631.1:n.2573-26_2573-25insCTTCCTCTGGAC
ENST00000698632.1:n.3635_3636insCTTCCTCTGGAC
ENST00000698633.1:n.3525_3526insCTTCCTCTGGAC
ENST00000425368.7:c.1856-26_1856-25insCTTCCTCTGGAC MANE Select	ENSP00000416561.2:n.1856-26_1856-25insCTTCCTCTGGAC
ENST00000425368.6:c.1856-26_1856-25insCTTCCTCTGGAC	ENSP00000416561.2:n.1856-26_1856-25insCTTCCTCTGGAC
ENST00000456570.5:c.3362-26_3362-25insCTTCCTCTGGAC	ENSP00000410815.1:n.3362-26_3362-25insCTTCCTCTGGAC
ENST00000467360.1:n.982-26_982-25insCTTCCTCTGGAC
ENST00000477310.1:c.2909-26_2909-25insCTTCCTCTGGAC	ENSP00000418996.1:n.2909-26_2909-25insCTTCCTCTGGAC
ENST00000482312.1:n.245_246insCTTCCTCTGGAC
ENST00000483004.1:c.478-26_478-25insCTTCCTCTGGAC
NM_001710.5:c.1856-26_1856-25insCTTCCTCTGGAC , LRG_136t1:c.1856-26_1856-25insCTTCCTCTGGAC	NP_001701.2:n.1856-26_1856-25insCTTCCTCTGGAC
NM_001710.6:c.1856-26_1856-25insCTTCCTCTGGAC MANE Select	NP_001701.2:n.1856-26_1856-25insCTTCCTCTGGAC