Canonical Allele Identifier: CA363409466

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918545A>T (hg19) ; chr6:g.31950768A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950768A>T , CM000668.2:g.31950768A>T	GRCh38
NC_000006.11:g.31918545A>T , CM000668.1:g.31918545A>T	GRCh37
NC_000006.10:g.32026524A>T	NCBI36
NG_008191.1:g.9825A>T , LRG_136:g.9825A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2166A>T
ENST00000483004.2:c.1558A>T	ENSP00000419887.2:p.Ile520Phe
ENST00000698628.1:c.1624+365A>T	ENSP00000513848.1:n.1624+365A>T
ENST00000698629.1:n.1951A>T
ENST00000698630.1:n.2490A>T
ENST00000698631.1:n.2491A>T
ENST00000698632.1:n.3285A>T
ENST00000698633.1:n.3175A>T
ENST00000698636.1:n.1996A>T
ENST00000425368.7:c.1774A>T MANE Select	ENSP00000416561.2:p.Ile592Phe
ENST00000425368.6:c.1774A>T	ENSP00000416561.2:p.Ile592Phe
ENST00000456570.5:c.3280A>T	ENSP00000410815.1:p.Ile1094Phe
ENST00000467360.1:n.900A>T
ENST00000477310.1:c.2827A>T	ENSP00000418996.1:p.Ile943Phe
ENST00000483004.1:c.396A>T
NM_001710.5:c.1774A>T , LRG_136t1:c.1774A>T	NP_001701.2:p.Ile592Phe
NM_001710.6:c.1774A>T MANE Select	NP_001701.2:p.Ile592Phe