Canonical Allele Identifier: CA3727996

Gene: CFB

Linked Data

• dbSNP Id: rs752219832
• ExAC: 6:31914493 AG / A
• gnomAD v2: 6-31914493-AG-A
• MyVariant Identifiers: chr6:g.31914494del (hg19) ; chr6:g.31946717del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946717del , CM000668.2:g.31946717del	GRCh38
NC_000006.11:g.31914494del , CM000668.1:g.31914494del	GRCh37
NC_000006.10:g.32022473del	NCBI36
NG_008191.1:g.5774del , LRG_136:g.5774del
NG_011730.1:g.24229del , LRG_26:g.24229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.475+111del
ENST00000483004.2:c.298+111del	ENSP00000419887.2:n.298+111del
ENST00000497841.6:c.298+111del	ENSP00000513847.1:n.298+111del
ENST00000698628.1:c.298+111del	ENSP00000513848.1:n.298+111del
ENST00000698629.1:n.475+111del
ENST00000698630.1:n.570del
ENST00000698631.1:n.565del
ENST00000698632.1:n.537del
ENST00000698633.1:n.507del
ENST00000698636.1:n.520+111del
ENST00000425368.7:c.298+111del MANE Select	ENSP00000416561.2:n.298+111del
ENST00000425368.6:c.298+111del	ENSP00000416561.2:n.298+111del
ENST00000452035.6:n.298+111del
ENST00000456570.5:c.1804+111del	ENSP00000410815.1:n.1804+111del
ENST00000460718.5:c.185+111del	ENSP00000417793.1:n.185+111del
ENST00000472581.1:n.656del
ENST00000475617.5:c.298+111del	ENSP00000420090.1:n.298+111del
ENST00000477310.1:c.1352-290del	ENSP00000418996.1:n.1352-290del
NM_001710.5:c.298+111del , LRG_136t1:c.298+111del	NP_001701.2:n.298+111del
NM_001710.6:c.298+111del MANE Select	NP_001701.2:n.298+111del