Canonical Allele Identifier: CA363408859

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918452A>T (hg19) ; chr6:g.31950675A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950675A>T , CM000668.2:g.31950675A>T	GRCh38
NC_000006.11:g.31918452A>T , CM000668.1:g.31918452A>T	GRCh37
NC_000006.10:g.32026431A>T	NCBI36
NG_008191.1:g.9732A>T , LRG_136:g.9732A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2073A>T
ENST00000483004.2:c.1465A>T	ENSP00000419887.2:p.Ile489Phe
ENST00000698628.1:c.1624+272A>T	ENSP00000513848.1:n.1624+272A>T
ENST00000698629.1:n.1858A>T
ENST00000698630.1:n.2397A>T
ENST00000698631.1:n.2398A>T
ENST00000698632.1:n.3192A>T
ENST00000698633.1:n.3082A>T
ENST00000698636.1:n.1903A>T
ENST00000425368.7:c.1681A>T MANE Select	ENSP00000416561.2:p.Ile561Phe
ENST00000425368.6:c.1681A>T	ENSP00000416561.2:p.Ile561Phe
ENST00000456570.5:c.3187A>T	ENSP00000410815.1:p.Ile1063Phe
ENST00000467360.1:n.807A>T
ENST00000477310.1:c.2734A>T	ENSP00000418996.1:p.Ile912Phe
ENST00000483004.1:c.303A>T
NM_001710.5:c.1681A>T , LRG_136t1:c.1681A>T	NP_001701.2:p.Ile561Phe
NM_001710.6:c.1681A>T MANE Select	NP_001701.2:p.Ile561Phe