Canonical Allele Identifier: CA363389131

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31914309C>G (hg19) ; chr6:g.31946532C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946532C>G , CM000668.2:g.31946532C>G	GRCh38
NC_000006.11:g.31914309C>G , CM000668.1:g.31914309C>G	GRCh37
NC_000006.10:g.32022288C>G	NCBI36
NG_008191.1:g.5589C>G , LRG_136:g.5589C>G
NG_011730.1:g.24044C>G , LRG_26:g.24044C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.401C>G
ENST00000483004.2:c.224C>G	ENSP00000419887.2:p.Thr75Ser
ENST00000497841.6:c.224C>G	ENSP00000513847.1:p.Thr75Ser
ENST00000698628.1:c.224C>G	ENSP00000513848.1:p.Thr75Ser
ENST00000698629.1:n.401C>G
ENST00000698630.1:n.385C>G
ENST00000698631.1:n.380C>G
ENST00000698632.1:n.352C>G
ENST00000698633.1:n.322C>G
ENST00000698636.1:n.446C>G
ENST00000425368.7:c.224C>G MANE Select	ENSP00000416561.2:p.Thr75Ser
ENST00000425368.6:c.224C>G	ENSP00000416561.2:p.Thr75Ser
ENST00000452035.6:n.224C>G
ENST00000456570.5:c.1730C>G	ENSP00000410815.1:p.Thr577Ser
ENST00000460718.5:c.111C>G	ENSP00000417793.1:p.Tyr37Ter
ENST00000472581.1:n.471C>G
ENST00000475617.5:c.224C>G	ENSP00000420090.1:p.Thr75Ser
ENST00000477310.1:c.1352-475C>G	ENSP00000418996.1:n.1352-475C>G
NM_001710.5:c.224C>G , LRG_136t1:c.224C>G	NP_001701.2:p.Thr75Ser
NM_001710.6:c.224C>G MANE Select	NP_001701.2:p.Thr75Ser