Canonical Allele Identifier: CA363409064

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918488T>C (hg19) ; chr6:g.31950711T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950711T>C , CM000668.2:g.31950711T>C	GRCh38
NC_000006.11:g.31918488T>C , CM000668.1:g.31918488T>C	GRCh37
NC_000006.10:g.32026467T>C	NCBI36
NG_008191.1:g.9768T>C , LRG_136:g.9768T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2109T>C
ENST00000483004.2:c.1501T>C	ENSP00000419887.2:p.Tyr501His
ENST00000698628.1:c.1624+308T>C	ENSP00000513848.1:n.1624+308T>C
ENST00000698629.1:n.1894T>C
ENST00000698630.1:n.2433T>C
ENST00000698631.1:n.2434T>C
ENST00000698632.1:n.3228T>C
ENST00000698633.1:n.3118T>C
ENST00000698636.1:n.1939T>C
ENST00000425368.7:c.1717T>C MANE Select	ENSP00000416561.2:p.Tyr573His
ENST00000425368.6:c.1717T>C	ENSP00000416561.2:p.Tyr573His
ENST00000456570.5:c.3223T>C	ENSP00000410815.1:p.Tyr1075His
ENST00000467360.1:n.843T>C
ENST00000477310.1:c.2770T>C	ENSP00000418996.1:p.Tyr924His
ENST00000483004.1:c.339T>C
NM_001710.5:c.1717T>C , LRG_136t1:c.1717T>C	NP_001701.2:p.Tyr573His
NM_001710.6:c.1717T>C MANE Select	NP_001701.2:p.Tyr573His