Canonical Allele Identifier: CA363410020

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918698C>T (hg19) ; chr6:g.31950921C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950921C>T , CM000668.2:g.31950921C>T	GRCh38
NC_000006.11:g.31918698C>T , CM000668.1:g.31918698C>T	GRCh37
NC_000006.10:g.32026677C>T	NCBI36
NG_008191.1:g.9978C>T , LRG_136:g.9978C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2319C>T
ENST00000483004.2:c.1616C>T	ENSP00000419887.2:p.Pro539Leu
ENST00000698628.1:c.1625-223C>T	ENSP00000513848.1:n.1625-223C>T
ENST00000698629.1:n.2104C>T
ENST00000698630.1:n.2548C>T
ENST00000698631.1:n.2549C>T
ENST00000698632.1:n.3438C>T
ENST00000698633.1:n.3328C>T
ENST00000425368.7:c.1832C>T MANE Select	ENSP00000416561.2:p.Pro611Leu
ENST00000425368.6:c.1832C>T	ENSP00000416561.2:p.Pro611Leu
ENST00000456570.5:c.3338C>T	ENSP00000410815.1:p.Pro1113Leu
ENST00000467360.1:n.958C>T
ENST00000477310.1:c.2885C>T	ENSP00000418996.1:p.Pro962Leu
ENST00000482312.1:n.48C>T
ENST00000483004.1:c.454C>T
NM_001710.5:c.1832C>T , LRG_136t1:c.1832C>T	NP_001701.2:p.Pro611Leu
NM_001710.6:c.1832C>T MANE Select	NP_001701.2:p.Pro611Leu