Canonical Allele Identifier: CA823919602

Gene: CFB

Linked Data

• dbSNP Id: rs1181239790
• MyVariant Identifiers: chr6:g.31914177_31914179del (hg19) ; chr6:g.31946400_31946402del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946400_31946402del , CM000668.2:g.31946400_31946402del	GRCh38
NC_000006.11:g.31914177_31914179del , CM000668.1:g.31914177_31914179del	GRCh37
NC_000006.10:g.32022156_32022158del	NCBI36
NG_008191.1:g.5457_5459del , LRG_136:g.5457_5459del
NG_011730.1:g.23912_23914del , LRG_26:g.23912_23914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.269_271del
ENST00000483004.2:c.92_94del	ENSP00000419887.2:p.Ala31_Arg32delinsGly
ENST00000497841.6:c.92_94del	ENSP00000513847.1:p.Ala31_Arg32delinsGly
ENST00000698628.1:c.92_94del	ENSP00000513848.1:p.Ala31_Arg32delinsGly
ENST00000698629.1:n.269_271del
ENST00000698630.1:n.253_255del
ENST00000698631.1:n.248_250del
ENST00000698632.1:n.220_222del
ENST00000698633.1:n.190_192del
ENST00000698636.1:n.314_316del
ENST00000425368.7:c.92_94del MANE Select	ENSP00000416561.2:p.Ala31_Arg32delinsGly
ENST00000425368.6:c.92_94del	ENSP00000416561.2:p.Ala31_Arg32delinsGly
ENST00000452035.6:n.92_94del
ENST00000456570.5:c.1598_1600del	ENSP00000410815.1:p.Ala533_Arg534delinsGly
ENST00000460718.5:c.65-86_65-84del	ENSP00000417793.1:n.65-86_65-84del
ENST00000472581.1:n.339_341del
ENST00000475617.5:c.92_94del	ENSP00000420090.1:p.Ala31_Arg32delinsGly
ENST00000477310.1:c.1352-607_1352-605del	ENSP00000418996.1:n.1352-607_1352-605del
NM_001710.5:c.92_94del , LRG_136t1:c.92_94del	NP_001701.2:p.Ala31_Arg32delinsGly
NM_001710.6:c.92_94del MANE Select	NP_001701.2:p.Ala31_Arg32delinsGly