Canonical Allele Identifier: CA449812134

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918478T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950701T>C , CM000668.2:g.31950701T>C	GRCh38
NC_000006.11:g.31918478T>C , CM000668.1:g.31918478T>C	GRCh37
NC_000006.10:g.32026457T>C	NCBI36
NG_008191.1:g.9758T>C , LRG_136:g.9758T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2099T>C
ENST00000483004.2:c.1491T>C	ENSP00000419887.2:p.Ile497=
ENST00000698628.1:c.1624+298T>C	ENSP00000513848.1:n.1624+298T>C
ENST00000698629.1:n.1884T>C
ENST00000698630.1:n.2423T>C
ENST00000698631.1:n.2424T>C
ENST00000698632.1:n.3218T>C
ENST00000698633.1:n.3108T>C
ENST00000698636.1:n.1929T>C
ENST00000425368.7:c.1707T>C MANE Select	ENSP00000416561.2:p.Ile569=
ENST00000425368.6:c.1707T>C	ENSP00000416561.2:p.Ile569=
ENST00000456570.5:c.3213T>C	ENSP00000410815.1:p.Ile1071=
ENST00000467360.1:n.833T>C
ENST00000477310.1:c.2760T>C	ENSP00000418996.1:p.Ile920=
ENST00000483004.1:c.329T>C
NM_001710.5:c.1707T>C , LRG_136t1:c.1707T>C	NP_001701.2:p.Ile569=
NM_001710.6:c.1707T>C MANE Select	NP_001701.2:p.Ile569=