Canonical Allele Identifier: CA449812166

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918508G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950731G>T , CM000668.2:g.31950731G>T	GRCh38
NC_000006.11:g.31918508G>T , CM000668.1:g.31918508G>T	GRCh37
NC_000006.10:g.32026487G>T	NCBI36
NG_008191.1:g.9788G>T , LRG_136:g.9788G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2129G>T
ENST00000483004.2:c.1521G>T	ENSP00000419887.2:p.Leu507=
ENST00000698628.1:c.1624+328G>T	ENSP00000513848.1:n.1624+328G>T
ENST00000698629.1:n.1914G>T
ENST00000698630.1:n.2453G>T
ENST00000698631.1:n.2454G>T
ENST00000698632.1:n.3248G>T
ENST00000698633.1:n.3138G>T
ENST00000698636.1:n.1959G>T
ENST00000425368.7:c.1737G>T MANE Select	ENSP00000416561.2:p.Leu579=
ENST00000425368.6:c.1737G>T	ENSP00000416561.2:p.Leu579=
ENST00000456570.5:c.3243G>T	ENSP00000410815.1:p.Leu1081=
ENST00000467360.1:n.863G>T
ENST00000477310.1:c.2790G>T	ENSP00000418996.1:p.Leu930=
ENST00000483004.1:c.359G>T
NM_001710.5:c.1737G>T , LRG_136t1:c.1737G>T	NP_001701.2:p.Leu579=
NM_001710.6:c.1737G>T MANE Select	NP_001701.2:p.Leu579=