Canonical Allele Identifier: CA363389495

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31914339T>G (hg19) ; chr6:g.31946562T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946562T>G , CM000668.2:g.31946562T>G	GRCh38
NC_000006.11:g.31914339T>G , CM000668.1:g.31914339T>G	GRCh37
NC_000006.10:g.32022318T>G	NCBI36
NG_008191.1:g.5619T>G , LRG_136:g.5619T>G
NG_011730.1:g.24074T>G , LRG_26:g.24074T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.431T>G
ENST00000483004.2:c.254T>G	ENSP00000419887.2:p.Leu85Arg
ENST00000497841.6:c.254T>G	ENSP00000513847.1:p.Leu85Arg
ENST00000698628.1:c.254T>G	ENSP00000513848.1:p.Leu85Arg
ENST00000698629.1:n.431T>G
ENST00000698630.1:n.415T>G
ENST00000698631.1:n.410T>G
ENST00000698632.1:n.382T>G
ENST00000698633.1:n.352T>G
ENST00000698636.1:n.476T>G
ENST00000425368.7:c.254T>G MANE Select	ENSP00000416561.2:p.Leu85Arg
ENST00000425368.6:c.254T>G	ENSP00000416561.2:p.Leu85Arg
ENST00000452035.6:n.254T>G
ENST00000456570.5:c.1760T>G	ENSP00000410815.1:p.Leu587Arg
ENST00000460718.5:c.141T>G	ENSP00000417793.1:p.Pro47=
ENST00000472581.1:n.501T>G
ENST00000475617.5:c.254T>G	ENSP00000420090.1:p.Leu85Arg
ENST00000477310.1:c.1352-445T>G	ENSP00000418996.1:n.1352-445T>G
NM_001710.5:c.254T>G , LRG_136t1:c.254T>G	NP_001701.2:p.Leu85Arg
NM_001710.6:c.254T>G MANE Select	NP_001701.2:p.Leu85Arg