Canonical Allele Identifier: CA449812080

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918433A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950656A>T , CM000668.2:g.31950656A>T	GRCh38
NC_000006.11:g.31918433A>T , CM000668.1:g.31918433A>T	GRCh37
NC_000006.10:g.32026412A>T	NCBI36
NG_008191.1:g.9713A>T , LRG_136:g.9713A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2054A>T
ENST00000483004.2:c.1446A>T	ENSP00000419887.2:p.Leu482=
ENST00000698628.1:c.1624+253A>T	ENSP00000513848.1:n.1624+253A>T
ENST00000698629.1:n.1839A>T
ENST00000698630.1:n.2378A>T
ENST00000698631.1:n.2379A>T
ENST00000698632.1:n.3173A>T
ENST00000698633.1:n.3063A>T
ENST00000698636.1:n.1884A>T
ENST00000425368.7:c.1662A>T MANE Select	ENSP00000416561.2:p.Leu554=
ENST00000425368.6:c.1662A>T	ENSP00000416561.2:p.Leu554=
ENST00000456570.5:c.3168A>T	ENSP00000410815.1:p.Leu1056=
ENST00000467360.1:n.788A>T
ENST00000477310.1:c.2715A>T	ENSP00000418996.1:p.Leu905=
ENST00000483004.1:c.284A>T
NM_001710.5:c.1662A>T , LRG_136t1:c.1662A>T	NP_001701.2:p.Leu554=
NM_001710.6:c.1662A>T MANE Select	NP_001701.2:p.Leu554=