Canonical Allele Identifier: CA363410266

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918716A>T (hg19) ; chr6:g.31950939A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950939A>T , CM000668.2:g.31950939A>T	GRCh38
NC_000006.11:g.31918716A>T , CM000668.1:g.31918716A>T	GRCh37
NC_000006.10:g.32026695A>T	NCBI36
NG_008191.1:g.9996A>T , LRG_136:g.9996A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2337A>T
ENST00000483004.2:c.1634A>T	ENSP00000419887.2:p.Gln545Leu
ENST00000698628.1:c.1625-205A>T	ENSP00000513848.1:n.1625-205A>T
ENST00000698629.1:n.2122A>T
ENST00000698630.1:n.2566A>T
ENST00000698631.1:n.2567A>T
ENST00000698632.1:n.3456A>T
ENST00000698633.1:n.3346A>T
ENST00000425368.7:c.1850A>T MANE Select	ENSP00000416561.2:p.Gln617Leu
ENST00000425368.6:c.1850A>T	ENSP00000416561.2:p.Gln617Leu
ENST00000456570.5:c.3356A>T	ENSP00000410815.1:p.Gln1119Leu
ENST00000467360.1:n.976A>T
ENST00000477310.1:c.2903A>T	ENSP00000418996.1:p.Gln968Leu
ENST00000482312.1:n.66A>T
ENST00000483004.1:c.472A>T
NM_001710.5:c.1850A>T , LRG_136t1:c.1850A>T	NP_001701.2:p.Gln617Leu
NM_001710.6:c.1850A>T MANE Select	NP_001701.2:p.Gln617Leu