Canonical Allele Identifier: CA3727969

Gene: CFB

Linked Data

• dbSNP Id: rs753950807
• ExAC: 6:31914307 T / C
• gnomAD v2: 6-31914307-T-C
• MyVariant Identifiers: chr6:g.31914307T>C (hg19) ; chr6:g.31946530T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946530T>C , CM000668.2:g.31946530T>C	GRCh38
NC_000006.11:g.31914307T>C , CM000668.1:g.31914307T>C	GRCh37
NC_000006.10:g.32022286T>C	NCBI36
NG_008191.1:g.5587T>C , LRG_136:g.5587T>C
NG_011730.1:g.24042T>C , LRG_26:g.24042T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.399T>C
ENST00000483004.2:c.222T>C	ENSP00000419887.2:p.Arg74=
ENST00000497841.6:c.222T>C	ENSP00000513847.1:p.Arg74=
ENST00000698628.1:c.222T>C	ENSP00000513848.1:p.Arg74=
ENST00000698629.1:n.399T>C
ENST00000698630.1:n.383T>C
ENST00000698631.1:n.378T>C
ENST00000698632.1:n.350T>C
ENST00000698633.1:n.320T>C
ENST00000698636.1:n.444T>C
ENST00000425368.7:c.222T>C MANE Select	ENSP00000416561.2:p.Arg74=
ENST00000425368.6:c.222T>C	ENSP00000416561.2:p.Arg74=
ENST00000452035.6:n.222T>C
ENST00000456570.5:c.1728T>C	ENSP00000410815.1:p.Arg576=
ENST00000460718.5:c.109T>C	ENSP00000417793.1:p.Tyr37His
ENST00000472581.1:n.469T>C
ENST00000475617.5:c.222T>C	ENSP00000420090.1:p.Arg74=
ENST00000477310.1:c.1352-477T>C	ENSP00000418996.1:n.1352-477T>C
NM_001710.5:c.222T>C , LRG_136t1:c.222T>C	NP_001701.2:p.Arg74=
NM_001710.6:c.222T>C MANE Select	NP_001701.2:p.Arg74=