Canonical Allele Identifier: CA363389581

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31914348A>C (hg19) ; chr6:g.31946571A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946571A>C , CM000668.2:g.31946571A>C	GRCh38
NC_000006.11:g.31914348A>C , CM000668.1:g.31914348A>C	GRCh37
NC_000006.10:g.32022327A>C	NCBI36
NG_008191.1:g.5628A>C , LRG_136:g.5628A>C
NG_011730.1:g.24083A>C , LRG_26:g.24083A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.440A>C
ENST00000483004.2:c.263A>C	ENSP00000419887.2:p.Gln88Pro
ENST00000497841.6:c.263A>C	ENSP00000513847.1:p.Gln88Pro
ENST00000698628.1:c.263A>C	ENSP00000513848.1:p.Gln88Pro
ENST00000698629.1:n.440A>C
ENST00000698630.1:n.424A>C
ENST00000698631.1:n.419A>C
ENST00000698632.1:n.391A>C
ENST00000698633.1:n.361A>C
ENST00000698636.1:n.485A>C
ENST00000425368.7:c.263A>C MANE Select	ENSP00000416561.2:p.Gln88Pro
ENST00000425368.6:c.263A>C	ENSP00000416561.2:p.Gln88Pro
ENST00000452035.6:n.263A>C
ENST00000456570.5:c.1769A>C	ENSP00000410815.1:p.Gln590Pro
ENST00000460718.5:c.150A>C	ENSP00000417793.1:p.Ser50=
ENST00000472581.1:n.510A>C
ENST00000475617.5:c.263A>C	ENSP00000420090.1:p.Gln88Pro
ENST00000477310.1:c.1352-436A>C	ENSP00000418996.1:n.1352-436A>C
NM_001710.5:c.263A>C , LRG_136t1:c.263A>C	NP_001701.2:p.Gln88Pro
NM_001710.6:c.263A>C MANE Select	NP_001701.2:p.Gln88Pro