Canonical Allele Identifier: CA363410295

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918720A>C (hg19) ; chr6:g.31950943A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950943A>C , CM000668.2:g.31950943A>C	GRCh38
NC_000006.11:g.31918720A>C , CM000668.1:g.31918720A>C	GRCh37
NC_000006.10:g.32026699A>C	NCBI36
NG_008191.1:g.10000A>C , LRG_136:g.10000A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2341A>C
ENST00000483004.2:c.1638A>C	ENSP00000419887.2:p.Gln546His
ENST00000698628.1:c.1625-201A>C	ENSP00000513848.1:n.1625-201A>C
ENST00000698629.1:n.2126A>C
ENST00000698630.1:n.2570A>C
ENST00000698631.1:n.2571A>C
ENST00000698632.1:n.3460A>C
ENST00000698633.1:n.3350A>C
ENST00000425368.7:c.1854A>C MANE Select	ENSP00000416561.2:p.Gln618His
ENST00000425368.6:c.1854A>C	ENSP00000416561.2:p.Gln618His
ENST00000456570.5:c.3360A>C	ENSP00000410815.1:p.Gln1120His
ENST00000467360.1:n.980A>C
ENST00000477310.1:c.2907A>C	ENSP00000418996.1:p.Gln969His
ENST00000482312.1:n.70A>C
ENST00000483004.1:c.476A>C
NM_001710.5:c.1854A>C , LRG_136t1:c.1854A>C	NP_001701.2:p.Gln618His
NM_001710.6:c.1854A>C MANE Select	NP_001701.2:p.Gln618His