Canonical Allele Identifier: CA363387931

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31914175G>C (hg19) ; chr6:g.31946398G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946398G>C , CM000668.2:g.31946398G>C	GRCh38
NC_000006.11:g.31914175G>C , CM000668.1:g.31914175G>C	GRCh37
NC_000006.10:g.32022154G>C	NCBI36
NG_008191.1:g.5455G>C , LRG_136:g.5455G>C
NG_011730.1:g.23910G>C , LRG_26:g.23910G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.267G>C
ENST00000483004.2:c.90G>C	ENSP00000419887.2:p.Leu30Phe
ENST00000497841.6:c.90G>C	ENSP00000513847.1:p.Leu30Phe
ENST00000698628.1:c.90G>C	ENSP00000513848.1:p.Leu30Phe
ENST00000698629.1:n.267G>C
ENST00000698630.1:n.251G>C
ENST00000698631.1:n.246G>C
ENST00000698632.1:n.218G>C
ENST00000698633.1:n.188G>C
ENST00000698636.1:n.312G>C
ENST00000425368.7:c.90G>C MANE Select	ENSP00000416561.2:p.Leu30Phe
ENST00000425368.6:c.90G>C	ENSP00000416561.2:p.Leu30Phe
ENST00000452035.6:n.90G>C
ENST00000456570.5:c.1596G>C	ENSP00000410815.1:p.Leu532Phe
ENST00000460718.5:c.65-88G>C	ENSP00000417793.1:n.65-88G>C
ENST00000472581.1:n.337G>C
ENST00000475617.5:c.90G>C	ENSP00000420090.1:p.Leu30Phe
ENST00000477310.1:c.1352-609G>C	ENSP00000418996.1:n.1352-609G>C
NM_001710.5:c.90G>C , LRG_136t1:c.90G>C	NP_001701.2:p.Leu30Phe
NM_001710.6:c.90G>C MANE Select	NP_001701.2:p.Leu30Phe