Canonical Allele Identifier: CA449811872

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31914310C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946533C>A , CM000668.2:g.31946533C>A	GRCh38
NC_000006.11:g.31914310C>A , CM000668.1:g.31914310C>A	GRCh37
NC_000006.10:g.32022289C>A	NCBI36
NG_008191.1:g.5590C>A , LRG_136:g.5590C>A
NG_011730.1:g.24045C>A , LRG_26:g.24045C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.402C>A
ENST00000483004.2:c.225C>A	ENSP00000419887.2:p.Thr75=
ENST00000497841.6:c.225C>A	ENSP00000513847.1:p.Thr75=
ENST00000698628.1:c.225C>A	ENSP00000513848.1:p.Thr75=
ENST00000698629.1:n.402C>A
ENST00000698630.1:n.386C>A
ENST00000698631.1:n.381C>A
ENST00000698632.1:n.353C>A
ENST00000698633.1:n.323C>A
ENST00000698636.1:n.447C>A
ENST00000425368.7:c.225C>A MANE Select	ENSP00000416561.2:p.Thr75=
ENST00000425368.6:c.225C>A	ENSP00000416561.2:p.Thr75=
ENST00000452035.6:n.225C>A
ENST00000456570.5:c.1731C>A	ENSP00000410815.1:p.Thr577=
ENST00000460718.5:c.112C>A	ENSP00000417793.1:p.Leu38Met
ENST00000472581.1:n.472C>A
ENST00000475617.5:c.225C>A	ENSP00000420090.1:p.Thr75=
ENST00000477310.1:c.1352-474C>A	ENSP00000418996.1:n.1352-474C>A
NM_001710.5:c.225C>A , LRG_136t1:c.225C>A	NP_001701.2:p.Thr75=
NM_001710.6:c.225C>A MANE Select	NP_001701.2:p.Thr75=