Canonical Allele Identifier: CA363387836

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31914165C>T (hg19) ; chr6:g.31946388C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946388C>T , CM000668.2:g.31946388C>T	GRCh38
NC_000006.11:g.31914165C>T , CM000668.1:g.31914165C>T	GRCh37
NC_000006.10:g.32022144C>T	NCBI36
NG_008191.1:g.5445C>T , LRG_136:g.5445C>T
NG_011730.1:g.23900C>T , LRG_26:g.23900C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.257C>T
ENST00000483004.2:c.80C>T	ENSP00000419887.2:p.Pro27Leu
ENST00000497841.6:c.80C>T	ENSP00000513847.1:p.Pro27Leu
ENST00000698628.1:c.80C>T	ENSP00000513848.1:p.Pro27Leu
ENST00000698629.1:n.257C>T
ENST00000698630.1:n.241C>T
ENST00000698631.1:n.236C>T
ENST00000698632.1:n.208C>T
ENST00000698633.1:n.178C>T
ENST00000698636.1:n.302C>T
ENST00000425368.7:c.80C>T MANE Select	ENSP00000416561.2:p.Pro27Leu
ENST00000425368.6:c.80C>T	ENSP00000416561.2:p.Pro27Leu
ENST00000452035.6:n.80C>T
ENST00000456570.5:c.1586C>T	ENSP00000410815.1:p.Pro529Leu
ENST00000460718.5:c.65-98C>T	ENSP00000417793.1:n.65-98C>T
ENST00000472581.1:n.327C>T
ENST00000475617.5:c.80C>T	ENSP00000420090.1:p.Pro27Leu
ENST00000477310.1:c.1352-619C>T	ENSP00000418996.1:n.1352-619C>T
NM_001710.5:c.80C>T , LRG_136t1:c.80C>T	NP_001701.2:p.Pro27Leu
NM_001710.6:c.80C>T MANE Select	NP_001701.2:p.Pro27Leu