Canonical Allele Identifier: CA363389709

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31914357A>C (hg19) ; chr6:g.31946580A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946580A>C , CM000668.2:g.31946580A>C	GRCh38
NC_000006.11:g.31914357A>C , CM000668.1:g.31914357A>C	GRCh37
NC_000006.10:g.32022336A>C	NCBI36
NG_008191.1:g.5637A>C , LRG_136:g.5637A>C
NG_011730.1:g.24092A>C , LRG_26:g.24092A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.449A>C
ENST00000483004.2:c.272A>C	ENSP00000419887.2:p.Lys91Thr
ENST00000497841.6:c.272A>C	ENSP00000513847.1:p.Lys91Thr
ENST00000698628.1:c.272A>C	ENSP00000513848.1:p.Lys91Thr
ENST00000698629.1:n.449A>C
ENST00000698630.1:n.433A>C
ENST00000698631.1:n.428A>C
ENST00000698632.1:n.400A>C
ENST00000698633.1:n.370A>C
ENST00000698636.1:n.494A>C
ENST00000425368.7:c.272A>C MANE Select	ENSP00000416561.2:p.Lys91Thr
ENST00000425368.6:c.272A>C	ENSP00000416561.2:p.Lys91Thr
ENST00000452035.6:n.272A>C
ENST00000456570.5:c.1778A>C	ENSP00000410815.1:p.Lys593Thr
ENST00000460718.5:c.159A>C	ENSP00000417793.1:p.Lys53Asn
ENST00000472581.1:n.519A>C
ENST00000475617.5:c.272A>C	ENSP00000420090.1:p.Lys91Thr
ENST00000477310.1:c.1352-427A>C	ENSP00000418996.1:n.1352-427A>C
NM_001710.5:c.272A>C , LRG_136t1:c.272A>C	NP_001701.2:p.Lys91Thr
NM_001710.6:c.272A>C MANE Select	NP_001701.2:p.Lys91Thr