Canonical Allele Identifier: CA363408678

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918424A>T (hg19) ; chr6:g.31950647A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950647A>T , CM000668.2:g.31950647A>T	GRCh38
NC_000006.11:g.31918424A>T , CM000668.1:g.31918424A>T	GRCh37
NC_000006.10:g.32026403A>T	NCBI36
NG_008191.1:g.9704A>T , LRG_136:g.9704A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2045A>T
ENST00000483004.2:c.1437A>T	ENSP00000419887.2:p.Glu479Asp
ENST00000698628.1:c.1624+244A>T	ENSP00000513848.1:n.1624+244A>T
ENST00000698629.1:n.1830A>T
ENST00000698630.1:n.2369A>T
ENST00000698631.1:n.2370A>T
ENST00000698632.1:n.3164A>T
ENST00000698633.1:n.3054A>T
ENST00000698636.1:n.1875A>T
ENST00000425368.7:c.1653A>T MANE Select	ENSP00000416561.2:p.Glu551Asp
ENST00000425368.6:c.1653A>T	ENSP00000416561.2:p.Glu551Asp
ENST00000456570.5:c.3159A>T	ENSP00000410815.1:p.Glu1053Asp
ENST00000467360.1:n.779A>T
ENST00000477310.1:c.2706A>T	ENSP00000418996.1:p.Glu902Asp
ENST00000483004.1:c.275A>T
NM_001710.5:c.1653A>T , LRG_136t1:c.1653A>T	NP_001701.2:p.Glu551Asp
NM_001710.6:c.1653A>T MANE Select	NP_001701.2:p.Glu551Asp