Canonical Allele Identifier: CA449687267

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918705C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950928C>T , CM000668.2:g.31950928C>T	GRCh38
NC_000006.11:g.31918705C>T , CM000668.1:g.31918705C>T	GRCh37
NC_000006.10:g.32026684C>T	NCBI36
NG_008191.1:g.9985C>T , LRG_136:g.9985C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2326C>T
ENST00000483004.2:c.1623C>T	ENSP00000419887.2:p.Thr541=
ENST00000698628.1:c.1625-216C>T	ENSP00000513848.1:n.1625-216C>T
ENST00000698629.1:n.2111C>T
ENST00000698630.1:n.2555C>T
ENST00000698631.1:n.2556C>T
ENST00000698632.1:n.3445C>T
ENST00000698633.1:n.3335C>T
ENST00000425368.7:c.1839C>T MANE Select	ENSP00000416561.2:p.Thr613=
ENST00000425368.6:c.1839C>T	ENSP00000416561.2:p.Thr613=
ENST00000456570.5:c.3345C>T	ENSP00000410815.1:p.Thr1115=
ENST00000467360.1:n.965C>T
ENST00000477310.1:c.2892C>T	ENSP00000418996.1:p.Thr964=
ENST00000482312.1:n.55C>T
ENST00000483004.1:c.461C>T
NM_001710.5:c.1839C>T , LRG_136t1:c.1839C>T	NP_001701.2:p.Thr613=
NM_001710.6:c.1839C>T MANE Select	NP_001701.2:p.Thr613=