Canonical Allele Identifier: CA363409736

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918662G>T (hg19) ; chr6:g.31950885G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950885G>T , CM000668.2:g.31950885G>T	GRCh38
NC_000006.11:g.31918662G>T , CM000668.1:g.31918662G>T	GRCh37
NC_000006.10:g.32026641G>T	NCBI36
NG_008191.1:g.9942G>T , LRG_136:g.9942G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2283G>T
ENST00000483004.2:c.1580G>T	ENSP00000419887.2:p.Cys527Phe
ENST00000698628.1:c.1625-259G>T	ENSP00000513848.1:n.1625-259G>T
ENST00000698629.1:n.2068G>T
ENST00000698630.1:n.2512G>T
ENST00000698631.1:n.2513G>T
ENST00000698632.1:n.3402G>T
ENST00000698633.1:n.3292G>T
ENST00000425368.7:c.1796G>T MANE Select	ENSP00000416561.2:p.Cys599Phe
ENST00000425368.6:c.1796G>T	ENSP00000416561.2:p.Cys599Phe
ENST00000456570.5:c.3302G>T	ENSP00000410815.1:p.Cys1101Phe
ENST00000467360.1:n.922G>T
ENST00000477310.1:c.2849G>T	ENSP00000418996.1:p.Cys950Phe
ENST00000482312.1:n.12G>T
ENST00000483004.1:c.418G>T
NM_001710.5:c.1796G>T , LRG_136t1:c.1796G>T	NP_001701.2:p.Cys599Phe
NM_001710.6:c.1796G>T MANE Select	NP_001701.2:p.Cys599Phe