Canonical Allele Identifier: CA449687251

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918702T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950925T>G , CM000668.2:g.31950925T>G	GRCh38
NC_000006.11:g.31918702T>G , CM000668.1:g.31918702T>G	GRCh37
NC_000006.10:g.32026681T>G	NCBI36
NG_008191.1:g.9982T>G , LRG_136:g.9982T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2323T>G
ENST00000483004.2:c.1620T>G	ENSP00000419887.2:p.Thr540=
ENST00000698628.1:c.1625-219T>G	ENSP00000513848.1:n.1625-219T>G
ENST00000698629.1:n.2108T>G
ENST00000698630.1:n.2552T>G
ENST00000698631.1:n.2553T>G
ENST00000698632.1:n.3442T>G
ENST00000698633.1:n.3332T>G
ENST00000425368.7:c.1836T>G MANE Select	ENSP00000416561.2:p.Thr612=
ENST00000425368.6:c.1836T>G	ENSP00000416561.2:p.Thr612=
ENST00000456570.5:c.3342T>G	ENSP00000410815.1:p.Thr1114=
ENST00000467360.1:n.962T>G
ENST00000477310.1:c.2889T>G	ENSP00000418996.1:p.Thr963=
ENST00000482312.1:n.52T>G
ENST00000483004.1:c.458T>G
NM_001710.5:c.1836T>G , LRG_136t1:c.1836T>G	NP_001701.2:p.Thr612=
NM_001710.6:c.1836T>G MANE Select	NP_001701.2:p.Thr612=