Canonical Allele Identifier: CA449687240

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918699A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950922A>C , CM000668.2:g.31950922A>C	GRCh38
NC_000006.11:g.31918699A>C , CM000668.1:g.31918699A>C	GRCh37
NC_000006.10:g.32026678A>C	NCBI36
NG_008191.1:g.9979A>C , LRG_136:g.9979A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2320A>C
ENST00000483004.2:c.1617A>C	ENSP00000419887.2:p.Pro539=
ENST00000698628.1:c.1625-222A>C	ENSP00000513848.1:n.1625-222A>C
ENST00000698629.1:n.2105A>C
ENST00000698630.1:n.2549A>C
ENST00000698631.1:n.2550A>C
ENST00000698632.1:n.3439A>C
ENST00000698633.1:n.3329A>C
ENST00000425368.7:c.1833A>C MANE Select	ENSP00000416561.2:p.Pro611=
ENST00000425368.6:c.1833A>C	ENSP00000416561.2:p.Pro611=
ENST00000456570.5:c.3339A>C	ENSP00000410815.1:p.Pro1113=
ENST00000467360.1:n.959A>C
ENST00000477310.1:c.2886A>C	ENSP00000418996.1:p.Pro962=
ENST00000482312.1:n.49A>C
ENST00000483004.1:c.455A>C
NM_001710.5:c.1833A>C , LRG_136t1:c.1833A>C	NP_001701.2:p.Pro611=
NM_001710.6:c.1833A>C MANE Select	NP_001701.2:p.Pro611=