Canonical Allele Identifier: CA363408607

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918405A>G (hg19) ; chr6:g.31950628A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950628A>G , CM000668.2:g.31950628A>G	GRCh38
NC_000006.11:g.31918405A>G , CM000668.1:g.31918405A>G	GRCh37
NC_000006.10:g.32026384A>G	NCBI36
NG_008191.1:g.9685A>G , LRG_136:g.9685A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2026A>G
ENST00000483004.2:c.1418A>G	ENSP00000419887.2:p.Lys473Arg
ENST00000698628.1:c.1624+225A>G	ENSP00000513848.1:n.1624+225A>G
ENST00000698629.1:n.1811A>G
ENST00000698630.1:n.2350A>G
ENST00000698631.1:n.2351A>G
ENST00000698632.1:n.3145A>G
ENST00000698633.1:n.3035A>G
ENST00000698636.1:n.1856A>G
ENST00000425368.7:c.1634A>G MANE Select	ENSP00000416561.2:p.Lys545Arg
ENST00000425368.6:c.1634A>G	ENSP00000416561.2:p.Lys545Arg
ENST00000452035.6:n.1849A>G
ENST00000456570.5:c.3140A>G	ENSP00000410815.1:p.Lys1047Arg
ENST00000467360.1:n.760A>G
ENST00000477310.1:c.2687A>G	ENSP00000418996.1:p.Lys896Arg
ENST00000483004.1:c.256A>G
NM_001710.5:c.1634A>G , LRG_136t1:c.1634A>G	NP_001701.2:p.Lys545Arg
NM_001710.6:c.1634A>G MANE Select	NP_001701.2:p.Lys545Arg