Canonical Allele Identifier: CA449812096

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918179A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950402A>G , CM000668.2:g.31950402A>G	GRCh38
NC_000006.11:g.31918179A>G , CM000668.1:g.31918179A>G	GRCh37
NC_000006.10:g.32026158A>G	NCBI36
NG_008191.1:g.9459A>G , LRG_136:g.9459A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1800A>G
ENST00000483004.2:c.1409-217A>G	ENSP00000419887.2:n.1409-217A>G
ENST00000698628.1:c.1623A>G	ENSP00000513848.1:p.Val541=
ENST00000698629.1:n.1800A>G
ENST00000698630.1:n.2339A>G
ENST00000698631.1:n.2340A>G
ENST00000698632.1:n.2919A>G
ENST00000698633.1:n.2809A>G
ENST00000698636.1:n.1845A>G
ENST00000425368.7:c.1623A>G MANE Select	ENSP00000416561.2:p.Val541=
ENST00000425368.6:c.1623A>G	ENSP00000416561.2:p.Val541=
ENST00000452035.6:n.1623A>G
ENST00000456570.5:c.3129A>G	ENSP00000410815.1:p.Val1043=
ENST00000467360.1:n.534A>G
ENST00000477310.1:c.2676A>G	ENSP00000418996.1:p.Val892=
ENST00000483004.1:c.247-217A>G
NM_001710.5:c.1623A>G , LRG_136t1:c.1623A>G	NP_001701.2:p.Val541=
NM_001710.6:c.1623A>G MANE Select	NP_001701.2:p.Val541=