Canonical Allele Identifier: CA2678072618

Gene: CFB

Linked Data

• gnomAD v4: 6-31946657-C-CGGCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946661_31946662insAGGCA , CM000668.2:g.31946661_31946662insAGGCA	GRCh38
NC_000006.11:g.31914438_31914439insAGGCA , CM000668.1:g.31914438_31914439insAGGCA	GRCh37
NC_000006.10:g.32022417_32022418insAGGCA	NCBI36
NG_008191.1:g.5718_5719insAGGCA , LRG_136:g.5718_5719insAGGCA
NG_011730.1:g.24173_24174insAGGCA , LRG_26:g.24173_24174insAGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.475+55_475+56insAGGCA
ENST00000483004.2:c.298+55_298+56insAGGCA	ENSP00000419887.2:n.298+55_298+56insAGGCA
ENST00000497841.6:c.298+55_298+56insAGGCA	ENSP00000513847.1:n.298+55_298+56insAGGCA
ENST00000698628.1:c.298+55_298+56insAGGCA	ENSP00000513848.1:n.298+55_298+56insAGGCA
ENST00000698629.1:n.475+55_475+56insAGGCA
ENST00000698630.1:n.514_515insAGGCA
ENST00000698631.1:n.509_510insAGGCA
ENST00000698632.1:n.481_482insAGGCA
ENST00000698633.1:n.451_452insAGGCA
ENST00000698636.1:n.520+55_520+56insAGGCA
ENST00000425368.7:c.298+55_298+56insAGGCA MANE Select	ENSP00000416561.2:n.298+55_298+56insAGGCA
ENST00000425368.6:c.298+55_298+56insAGGCA	ENSP00000416561.2:n.298+55_298+56insAGGCA
ENST00000452035.6:n.298+55_298+56insAGGCA
ENST00000456570.5:c.1804+55_1804+56insAGGCA	ENSP00000410815.1:n.1804+55_1804+56insAGGCA
ENST00000460718.5:c.185+55_185+56insAGGCA	ENSP00000417793.1:n.185+55_185+56insAGGCA
ENST00000472581.1:n.600_601insAGGCA
ENST00000475617.5:c.298+55_298+56insAGGCA	ENSP00000420090.1:n.298+55_298+56insAGGCA
ENST00000477310.1:c.1352-346_1352-345insAGGCA	ENSP00000418996.1:n.1352-346_1352-345insAGGCA
NM_001710.5:c.298+55_298+56insAGGCA , LRG_136t1:c.298+55_298+56insAGGCA	NP_001701.2:n.298+55_298+56insAGGCA
NM_001710.6:c.298+55_298+56insAGGCA MANE Select	NP_001701.2:n.298+55_298+56insAGGCA