Canonical Allele Identifier: CA449812042

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918409G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950632G>T , CM000668.2:g.31950632G>T	GRCh38
NC_000006.11:g.31918409G>T , CM000668.1:g.31918409G>T	GRCh37
NC_000006.10:g.32026388G>T	NCBI36
NG_008191.1:g.9689G>T , LRG_136:g.9689G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2030G>T
ENST00000483004.2:c.1422G>T	ENSP00000419887.2:p.Arg474=
ENST00000698628.1:c.1624+229G>T	ENSP00000513848.1:n.1624+229G>T
ENST00000698629.1:n.1815G>T
ENST00000698630.1:n.2354G>T
ENST00000698631.1:n.2355G>T
ENST00000698632.1:n.3149G>T
ENST00000698633.1:n.3039G>T
ENST00000698636.1:n.1860G>T
ENST00000425368.7:c.1638G>T MANE Select	ENSP00000416561.2:p.Arg546=
ENST00000425368.6:c.1638G>T	ENSP00000416561.2:p.Arg546=
ENST00000452035.6:n.1853G>T
ENST00000456570.5:c.3144G>T	ENSP00000410815.1:p.Arg1048=
ENST00000467360.1:n.764G>T
ENST00000477310.1:c.2691G>T	ENSP00000418996.1:p.Arg897=
ENST00000483004.1:c.260G>T
NM_001710.5:c.1638G>T , LRG_136t1:c.1638G>T	NP_001701.2:p.Arg546=
NM_001710.6:c.1638G>T MANE Select	NP_001701.2:p.Arg546=