Canonical Allele Identifier: CA363408750

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918435T>C (hg19) ; chr6:g.31950658T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950658T>C , CM000668.2:g.31950658T>C	GRCh38
NC_000006.11:g.31918435T>C , CM000668.1:g.31918435T>C	GRCh37
NC_000006.10:g.32026414T>C	NCBI36
NG_008191.1:g.9715T>C , LRG_136:g.9715T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2056T>C
ENST00000483004.2:c.1448T>C	ENSP00000419887.2:p.Phe483Ser
ENST00000698628.1:c.1624+255T>C	ENSP00000513848.1:n.1624+255T>C
ENST00000698629.1:n.1841T>C
ENST00000698630.1:n.2380T>C
ENST00000698631.1:n.2381T>C
ENST00000698632.1:n.3175T>C
ENST00000698633.1:n.3065T>C
ENST00000698636.1:n.1886T>C
ENST00000425368.7:c.1664T>C MANE Select	ENSP00000416561.2:p.Phe555Ser
ENST00000425368.6:c.1664T>C	ENSP00000416561.2:p.Phe555Ser
ENST00000456570.5:c.3170T>C	ENSP00000410815.1:p.Phe1057Ser
ENST00000467360.1:n.790T>C
ENST00000477310.1:c.2717T>C	ENSP00000418996.1:p.Phe906Ser
ENST00000483004.1:c.286T>C
NM_001710.5:c.1664T>C , LRG_136t1:c.1664T>C	NP_001701.2:p.Phe555Ser
NM_001710.6:c.1664T>C MANE Select	NP_001701.2:p.Phe555Ser