Canonical Allele Identifier: CA363409447

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918542A>C (hg19) ; chr6:g.31950765A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950765A>C , CM000668.2:g.31950765A>C	GRCh38
NC_000006.11:g.31918542A>C , CM000668.1:g.31918542A>C	GRCh37
NC_000006.10:g.32026521A>C	NCBI36
NG_008191.1:g.9822A>C , LRG_136:g.9822A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2163A>C
ENST00000483004.2:c.1555A>C	ENSP00000419887.2:p.Thr519Pro
ENST00000698628.1:c.1624+362A>C	ENSP00000513848.1:n.1624+362A>C
ENST00000698629.1:n.1948A>C
ENST00000698630.1:n.2487A>C
ENST00000698631.1:n.2488A>C
ENST00000698632.1:n.3282A>C
ENST00000698633.1:n.3172A>C
ENST00000698636.1:n.1993A>C
ENST00000425368.7:c.1771A>C MANE Select	ENSP00000416561.2:p.Thr591Pro
ENST00000425368.6:c.1771A>C	ENSP00000416561.2:p.Thr591Pro
ENST00000456570.5:c.3277A>C	ENSP00000410815.1:p.Thr1093Pro
ENST00000467360.1:n.897A>C
ENST00000477310.1:c.2824A>C	ENSP00000418996.1:p.Thr942Pro
ENST00000483004.1:c.393A>C
NM_001710.5:c.1771A>C , LRG_136t1:c.1771A>C	NP_001701.2:p.Thr591Pro
NM_001710.6:c.1771A>C MANE Select	NP_001701.2:p.Thr591Pro