Canonical Allele Identifier: CA363408575

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918401G>A (hg19) ; chr6:g.31950624G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950624G>A , CM000668.2:g.31950624G>A	GRCh38
NC_000006.11:g.31918401G>A , CM000668.1:g.31918401G>A	GRCh37
NC_000006.10:g.32026380G>A	NCBI36
NG_008191.1:g.9681G>A , LRG_136:g.9681G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2022G>A
ENST00000483004.2:c.1414G>A	ENSP00000419887.2:p.Glu472Lys
ENST00000698628.1:c.1624+221G>A	ENSP00000513848.1:n.1624+221G>A
ENST00000698629.1:n.1807G>A
ENST00000698630.1:n.2346G>A
ENST00000698631.1:n.2347G>A
ENST00000698632.1:n.3141G>A
ENST00000698633.1:n.3031G>A
ENST00000698636.1:n.1852G>A
ENST00000425368.7:c.1630G>A MANE Select	ENSP00000416561.2:p.Glu544Lys
ENST00000425368.6:c.1630G>A	ENSP00000416561.2:p.Glu544Lys
ENST00000452035.6:n.1845G>A
ENST00000456570.5:c.3136G>A	ENSP00000410815.1:p.Glu1046Lys
ENST00000467360.1:n.756G>A
ENST00000477310.1:c.2683G>A	ENSP00000418996.1:p.Glu895Lys
ENST00000483004.1:c.252G>A
NM_001710.5:c.1630G>A , LRG_136t1:c.1630G>A	NP_001701.2:p.Glu544Lys
NM_001710.6:c.1630G>A MANE Select	NP_001701.2:p.Glu544Lys