Canonical Allele Identifier: CA363410021

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918700A>C (hg19) ; chr6:g.31950923A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950923A>C , CM000668.2:g.31950923A>C	GRCh38
NC_000006.11:g.31918700A>C , CM000668.1:g.31918700A>C	GRCh37
NC_000006.10:g.32026679A>C	NCBI36
NG_008191.1:g.9980A>C , LRG_136:g.9980A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2321A>C
ENST00000483004.2:c.1618A>C	ENSP00000419887.2:p.Thr540Pro
ENST00000698628.1:c.1625-221A>C	ENSP00000513848.1:n.1625-221A>C
ENST00000698629.1:n.2106A>C
ENST00000698630.1:n.2550A>C
ENST00000698631.1:n.2551A>C
ENST00000698632.1:n.3440A>C
ENST00000698633.1:n.3330A>C
ENST00000425368.7:c.1834A>C MANE Select	ENSP00000416561.2:p.Thr612Pro
ENST00000425368.6:c.1834A>C	ENSP00000416561.2:p.Thr612Pro
ENST00000456570.5:c.3340A>C	ENSP00000410815.1:p.Thr1114Pro
ENST00000467360.1:n.960A>C
ENST00000477310.1:c.2887A>C	ENSP00000418996.1:p.Thr963Pro
ENST00000482312.1:n.50A>C
ENST00000483004.1:c.456A>C
NM_001710.5:c.1834A>C , LRG_136t1:c.1834A>C	NP_001701.2:p.Thr612Pro
NM_001710.6:c.1834A>C MANE Select	NP_001701.2:p.Thr612Pro