Canonical Allele Identifier: CA363389697

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31914355A>T (hg19) ; chr6:g.31946578A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946578A>T , CM000668.2:g.31946578A>T	GRCh38
NC_000006.11:g.31914355A>T , CM000668.1:g.31914355A>T	GRCh37
NC_000006.10:g.32022334A>T	NCBI36
NG_008191.1:g.5635A>T , LRG_136:g.5635A>T
NG_011730.1:g.24090A>T , LRG_26:g.24090A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.447A>T
ENST00000483004.2:c.270A>T	ENSP00000419887.2:p.Gln90His
ENST00000497841.6:c.270A>T	ENSP00000513847.1:p.Gln90His
ENST00000698628.1:c.270A>T	ENSP00000513848.1:p.Gln90His
ENST00000698629.1:n.447A>T
ENST00000698630.1:n.431A>T
ENST00000698631.1:n.426A>T
ENST00000698632.1:n.398A>T
ENST00000698633.1:n.368A>T
ENST00000698636.1:n.492A>T
ENST00000425368.7:c.270A>T MANE Select	ENSP00000416561.2:p.Gln90His
ENST00000425368.6:c.270A>T	ENSP00000416561.2:p.Gln90His
ENST00000452035.6:n.270A>T
ENST00000456570.5:c.1776A>T	ENSP00000410815.1:p.Gln592His
ENST00000460718.5:c.157A>T	ENSP00000417793.1:p.Lys53Ter
ENST00000472581.1:n.517A>T
ENST00000475617.5:c.270A>T	ENSP00000420090.1:p.Gln90His
ENST00000477310.1:c.1352-429A>T	ENSP00000418996.1:n.1352-429A>T
NM_001710.5:c.270A>T , LRG_136t1:c.270A>T	NP_001701.2:p.Gln90His
NM_001710.6:c.270A>T MANE Select	NP_001701.2:p.Gln90His