Canonical Allele Identifier: CA449812057

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918421A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950644A>T , CM000668.2:g.31950644A>T	GRCh38
NC_000006.11:g.31918421A>T , CM000668.1:g.31918421A>T	GRCh37
NC_000006.10:g.32026400A>T	NCBI36
NG_008191.1:g.9701A>T , LRG_136:g.9701A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2042A>T
ENST00000483004.2:c.1434A>T	ENSP00000419887.2:p.Ile478=
ENST00000698628.1:c.1624+241A>T	ENSP00000513848.1:n.1624+241A>T
ENST00000698629.1:n.1827A>T
ENST00000698630.1:n.2366A>T
ENST00000698631.1:n.2367A>T
ENST00000698632.1:n.3161A>T
ENST00000698633.1:n.3051A>T
ENST00000698636.1:n.1872A>T
ENST00000425368.7:c.1650A>T MANE Select	ENSP00000416561.2:p.Ile550=
ENST00000425368.6:c.1650A>T	ENSP00000416561.2:p.Ile550=
ENST00000452035.6:n.1865A>T
ENST00000456570.5:c.3156A>T	ENSP00000410815.1:p.Ile1052=
ENST00000467360.1:n.776A>T
ENST00000477310.1:c.2703A>T	ENSP00000418996.1:p.Ile901=
ENST00000483004.1:c.272A>T
NM_001710.5:c.1650A>T , LRG_136t1:c.1650A>T	NP_001701.2:p.Ile550=
NM_001710.6:c.1650A>T MANE Select	NP_001701.2:p.Ile550=