Canonical Allele Identifier: CA363408935

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918464A>T (hg19) ; chr6:g.31950687A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950687A>T , CM000668.2:g.31950687A>T	GRCh38
NC_000006.11:g.31918464A>T , CM000668.1:g.31918464A>T	GRCh37
NC_000006.10:g.32026443A>T	NCBI36
NG_008191.1:g.9744A>T , LRG_136:g.9744A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2085A>T
ENST00000483004.2:c.1477A>T	ENSP00000419887.2:p.Lys493Ter
ENST00000698628.1:c.1624+284A>T	ENSP00000513848.1:n.1624+284A>T
ENST00000698629.1:n.1870A>T
ENST00000698630.1:n.2409A>T
ENST00000698631.1:n.2410A>T
ENST00000698632.1:n.3204A>T
ENST00000698633.1:n.3094A>T
ENST00000698636.1:n.1915A>T
ENST00000425368.7:c.1693A>T MANE Select	ENSP00000416561.2:p.Lys565Ter
ENST00000425368.6:c.1693A>T	ENSP00000416561.2:p.Lys565Ter
ENST00000456570.5:c.3199A>T	ENSP00000410815.1:p.Lys1067Ter
ENST00000467360.1:n.819A>T
ENST00000477310.1:c.2746A>T	ENSP00000418996.1:p.Lys916Ter
ENST00000483004.1:c.315A>T
NM_001710.5:c.1693A>T , LRG_136t1:c.1693A>T	NP_001701.2:p.Lys565Ter
NM_001710.6:c.1693A>T MANE Select	NP_001701.2:p.Lys565Ter