Canonical Allele Identifier: CA363410105

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918706A>T (hg19) ; chr6:g.31950929A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950929A>T , CM000668.2:g.31950929A>T	GRCh38
NC_000006.11:g.31918706A>T , CM000668.1:g.31918706A>T	GRCh37
NC_000006.10:g.32026685A>T	NCBI36
NG_008191.1:g.9986A>T , LRG_136:g.9986A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2327A>T
ENST00000483004.2:c.1624A>T	ENSP00000419887.2:p.Thr542Ser
ENST00000698628.1:c.1625-215A>T	ENSP00000513848.1:n.1625-215A>T
ENST00000698629.1:n.2112A>T
ENST00000698630.1:n.2556A>T
ENST00000698631.1:n.2557A>T
ENST00000698632.1:n.3446A>T
ENST00000698633.1:n.3336A>T
ENST00000425368.7:c.1840A>T MANE Select	ENSP00000416561.2:p.Thr614Ser
ENST00000425368.6:c.1840A>T	ENSP00000416561.2:p.Thr614Ser
ENST00000456570.5:c.3346A>T	ENSP00000410815.1:p.Thr1116Ser
ENST00000467360.1:n.966A>T
ENST00000477310.1:c.2893A>T	ENSP00000418996.1:p.Thr965Ser
ENST00000482312.1:n.56A>T
ENST00000483004.1:c.462A>T
NM_001710.5:c.1840A>T , LRG_136t1:c.1840A>T	NP_001701.2:p.Thr614Ser
NM_001710.6:c.1840A>T MANE Select	NP_001701.2:p.Thr614Ser