Canonical Allele Identifier: CA363409625

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918647C>A (hg19) ; chr6:g.31950870C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950870C>A , CM000668.2:g.31950870C>A	GRCh38
NC_000006.11:g.31918647C>A , CM000668.1:g.31918647C>A	GRCh37
NC_000006.10:g.32026626C>A	NCBI36
NG_008191.1:g.9927C>A , LRG_136:g.9927C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2268C>A
ENST00000483004.2:c.1565C>A	ENSP00000419887.2:p.Pro522His
ENST00000698628.1:c.1625-274C>A	ENSP00000513848.1:n.1625-274C>A
ENST00000698629.1:n.2053C>A
ENST00000698630.1:n.2497C>A
ENST00000698631.1:n.2498C>A
ENST00000698632.1:n.3387C>A
ENST00000698633.1:n.3277C>A
ENST00000425368.7:c.1781C>A MANE Select	ENSP00000416561.2:p.Pro594His
ENST00000425368.6:c.1781C>A	ENSP00000416561.2:p.Pro594His
ENST00000456570.5:c.3287C>A	ENSP00000410815.1:p.Pro1096His
ENST00000467360.1:n.907C>A
ENST00000477310.1:c.2834C>A	ENSP00000418996.1:p.Pro945His
ENST00000483004.1:c.403C>A
NM_001710.5:c.1781C>A , LRG_136t1:c.1781C>A	NP_001701.2:p.Pro594His
NM_001710.6:c.1781C>A MANE Select	NP_001701.2:p.Pro594His