Canonical Allele Identifier: CA363408419

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918180G>A (hg19) ; chr6:g.31950403G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950403G>A , CM000668.2:g.31950403G>A	GRCh38
NC_000006.11:g.31918180G>A , CM000668.1:g.31918180G>A	GRCh37
NC_000006.10:g.32026159G>A	NCBI36
NG_008191.1:g.9460G>A , LRG_136:g.9460G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.1801G>A
ENST00000483004.2:c.1409-216G>A	ENSP00000419887.2:n.1409-216G>A
ENST00000698628.1:c.1624G>A	ENSP00000513848.1:p.Glu542Lys
ENST00000698629.1:n.1801G>A
ENST00000698630.1:n.2340G>A
ENST00000698631.1:n.2341G>A
ENST00000698632.1:n.2920G>A
ENST00000698633.1:n.2810G>A
ENST00000698636.1:n.1846G>A
ENST00000425368.7:c.1624G>A MANE Select	ENSP00000416561.2:p.Gly542Arg
ENST00000425368.6:c.1624G>A	ENSP00000416561.2:p.Gly542Arg
ENST00000452035.6:n.1624G>A
ENST00000456570.5:c.3130G>A	ENSP00000410815.1:p.Gly1044Arg
ENST00000467360.1:n.535G>A
ENST00000477310.1:c.2677G>A	ENSP00000418996.1:p.Gly893Arg
ENST00000483004.1:c.247-216G>A
NM_001710.5:c.1624G>A , LRG_136t1:c.1624G>A	NP_001701.2:p.Gly542Arg
NM_001710.6:c.1624G>A MANE Select	NP_001701.2:p.Gly542Arg