Canonical Allele Identifier: CA363408624

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918410G>C (hg19) ; chr6:g.31950633G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950633G>C , CM000668.2:g.31950633G>C	GRCh38
NC_000006.11:g.31918410G>C , CM000668.1:g.31918410G>C	GRCh37
NC_000006.10:g.32026389G>C	NCBI36
NG_008191.1:g.9690G>C , LRG_136:g.9690G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2031G>C
ENST00000483004.2:c.1423G>C	ENSP00000419887.2:p.Asp475His
ENST00000698628.1:c.1624+230G>C	ENSP00000513848.1:n.1624+230G>C
ENST00000698629.1:n.1816G>C
ENST00000698630.1:n.2355G>C
ENST00000698631.1:n.2356G>C
ENST00000698632.1:n.3150G>C
ENST00000698633.1:n.3040G>C
ENST00000698636.1:n.1861G>C
ENST00000425368.7:c.1639G>C MANE Select	ENSP00000416561.2:p.Asp547His
ENST00000425368.6:c.1639G>C	ENSP00000416561.2:p.Asp547His
ENST00000452035.6:n.1854G>C
ENST00000456570.5:c.3145G>C	ENSP00000410815.1:p.Asp1049His
ENST00000467360.1:n.765G>C
ENST00000477310.1:c.2692G>C	ENSP00000418996.1:p.Asp898His
ENST00000483004.1:c.261G>C
NM_001710.5:c.1639G>C , LRG_136t1:c.1639G>C	NP_001701.2:p.Asp547His
NM_001710.6:c.1639G>C MANE Select	NP_001701.2:p.Asp547His