Canonical Allele Identifier: CA363409237

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918518A>T (hg19) ; chr6:g.31950741A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950741A>T , CM000668.2:g.31950741A>T	GRCh38
NC_000006.11:g.31918518A>T , CM000668.1:g.31918518A>T	GRCh37
NC_000006.10:g.32026497A>T	NCBI36
NG_008191.1:g.9798A>T , LRG_136:g.9798A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2139A>T
ENST00000483004.2:c.1531A>T	ENSP00000419887.2:p.Lys511Ter
ENST00000698628.1:c.1624+338A>T	ENSP00000513848.1:n.1624+338A>T
ENST00000698629.1:n.1924A>T
ENST00000698630.1:n.2463A>T
ENST00000698631.1:n.2464A>T
ENST00000698632.1:n.3258A>T
ENST00000698633.1:n.3148A>T
ENST00000698636.1:n.1969A>T
ENST00000425368.7:c.1747A>T MANE Select	ENSP00000416561.2:p.Lys583Ter
ENST00000425368.6:c.1747A>T	ENSP00000416561.2:p.Lys583Ter
ENST00000456570.5:c.3253A>T	ENSP00000410815.1:p.Lys1085Ter
ENST00000467360.1:n.873A>T
ENST00000477310.1:c.2800A>T	ENSP00000418996.1:p.Lys934Ter
ENST00000483004.1:c.369A>T
NM_001710.5:c.1747A>T , LRG_136t1:c.1747A>T	NP_001701.2:p.Lys583Ter
NM_001710.6:c.1747A>T MANE Select	NP_001701.2:p.Lys583Ter