Canonical Allele Identifier: CA449687131

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918678T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950901T>C , CM000668.2:g.31950901T>C	GRCh38
NC_000006.11:g.31918678T>C , CM000668.1:g.31918678T>C	GRCh37
NC_000006.10:g.32026657T>C	NCBI36
NG_008191.1:g.9958T>C , LRG_136:g.9958T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2299T>C
ENST00000483004.2:c.1596T>C	ENSP00000419887.2:p.Thr532=
ENST00000698628.1:c.1625-243T>C	ENSP00000513848.1:n.1625-243T>C
ENST00000698629.1:n.2084T>C
ENST00000698630.1:n.2528T>C
ENST00000698631.1:n.2529T>C
ENST00000698632.1:n.3418T>C
ENST00000698633.1:n.3308T>C
ENST00000425368.7:c.1812T>C MANE Select	ENSP00000416561.2:p.Thr604=
ENST00000425368.6:c.1812T>C	ENSP00000416561.2:p.Thr604=
ENST00000456570.5:c.3318T>C	ENSP00000410815.1:p.Thr1106=
ENST00000467360.1:n.938T>C
ENST00000477310.1:c.2865T>C	ENSP00000418996.1:p.Thr955=
ENST00000482312.1:n.28T>C
ENST00000483004.1:c.434T>C
NM_001710.5:c.1812T>C , LRG_136t1:c.1812T>C	NP_001701.2:p.Thr604=
NM_001710.6:c.1812T>C MANE Select	NP_001701.2:p.Thr604=