Canonical Allele Identifier: CA2678074982

Gene: CFB

Linked Data

• gnomAD v4: 6-31951735-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951735G>C , CM000668.2:g.31951735G>C	GRCh38
NC_000006.11:g.31919512G>C , CM000668.1:g.31919512G>C	GRCh37
NC_000006.10:g.32027491G>C	NCBI36
NG_008191.1:g.10792G>C , LRG_136:g.10792G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2573+131G>C
ENST00000483004.2:c.1923+131G>C	ENSP00000419887.2:n.1923+131G>C
ENST00000698628.1:c.1908+131G>C	ENSP00000513848.1:n.1908+131G>C
ENST00000698629.1:n.2358+131G>C
ENST00000698630.1:n.2855+131G>C
ENST00000698631.1:n.2856+131G>C
ENST00000698632.1:n.3944+131G>C
ENST00000698633.1:n.3834+131G>C
ENST00000425368.7:c.2139+131G>C MANE Select	ENSP00000416561.2:n.2139+131G>C
ENST00000425368.6:c.2139+131G>C	ENSP00000416561.2:n.2139+131G>C
ENST00000456570.5:c.3645+131G>C	ENSP00000410815.1:n.3645+131G>C
ENST00000477310.1:c.3192+131G>C	ENSP00000418996.1:n.3192+131G>C
ENST00000482312.1:n.554+131G>C
ENST00000483004.1:c.761+131G>C
ENST00000498317.1:c.240G>C
NM_001710.5:c.2139+131G>C , LRG_136t1:c.2139+131G>C	NP_001701.2:n.2139+131G>C
NM_001710.6:c.2139+131G>C MANE Select	NP_001701.2:n.2139+131G>C