Canonical Allele Identifier: CA363408920

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918461A>T (hg19) ; chr6:g.31950684A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950684A>T , CM000668.2:g.31950684A>T	GRCh38
NC_000006.11:g.31918461A>T , CM000668.1:g.31918461A>T	GRCh37
NC_000006.10:g.32026440A>T	NCBI36
NG_008191.1:g.9741A>T , LRG_136:g.9741A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2082A>T
ENST00000483004.2:c.1474A>T	ENSP00000419887.2:p.Lys492Ter
ENST00000698628.1:c.1624+281A>T	ENSP00000513848.1:n.1624+281A>T
ENST00000698629.1:n.1867A>T
ENST00000698630.1:n.2406A>T
ENST00000698631.1:n.2407A>T
ENST00000698632.1:n.3201A>T
ENST00000698633.1:n.3091A>T
ENST00000698636.1:n.1912A>T
ENST00000425368.7:c.1690A>T MANE Select	ENSP00000416561.2:p.Lys564Ter
ENST00000425368.6:c.1690A>T	ENSP00000416561.2:p.Lys564Ter
ENST00000456570.5:c.3196A>T	ENSP00000410815.1:p.Lys1066Ter
ENST00000467360.1:n.816A>T
ENST00000477310.1:c.2743A>T	ENSP00000418996.1:p.Lys915Ter
ENST00000483004.1:c.312A>T
NM_001710.5:c.1690A>T , LRG_136t1:c.1690A>T	NP_001701.2:p.Lys564Ter
NM_001710.6:c.1690A>T MANE Select	NP_001701.2:p.Lys564Ter