Canonical Allele Identifier: CA363409248

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918520G>C (hg19) ; chr6:g.31950743G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950743G>C , CM000668.2:g.31950743G>C	GRCh38
NC_000006.11:g.31918520G>C , CM000668.1:g.31918520G>C	GRCh37
NC_000006.10:g.32026499G>C	NCBI36
NG_008191.1:g.9800G>C , LRG_136:g.9800G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2141G>C
ENST00000483004.2:c.1533G>C	ENSP00000419887.2:p.Lys511Asn
ENST00000698628.1:c.1624+340G>C	ENSP00000513848.1:n.1624+340G>C
ENST00000698629.1:n.1926G>C
ENST00000698630.1:n.2465G>C
ENST00000698631.1:n.2466G>C
ENST00000698632.1:n.3260G>C
ENST00000698633.1:n.3150G>C
ENST00000698636.1:n.1971G>C
ENST00000425368.7:c.1749G>C MANE Select	ENSP00000416561.2:p.Lys583Asn
ENST00000425368.6:c.1749G>C	ENSP00000416561.2:p.Lys583Asn
ENST00000456570.5:c.3255G>C	ENSP00000410815.1:p.Lys1085Asn
ENST00000467360.1:n.875G>C
ENST00000477310.1:c.2802G>C	ENSP00000418996.1:p.Lys934Asn
ENST00000483004.1:c.371G>C
NM_001710.5:c.1749G>C , LRG_136t1:c.1749G>C	NP_001701.2:p.Lys583Asn
NM_001710.6:c.1749G>C MANE Select	NP_001701.2:p.Lys583Asn