Canonical Allele Identifier: CA363409313

Gene: CFB

Linked Data

• gnomAD v4: 6-31950753-A-C
• MyVariant Identifiers: chr6:g.31918530A>C (hg19) ; chr6:g.31950753A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950753A>C , CM000668.2:g.31950753A>C	GRCh38
NC_000006.11:g.31918530A>C , CM000668.1:g.31918530A>C	GRCh37
NC_000006.10:g.32026509A>C	NCBI36
NG_008191.1:g.9810A>C , LRG_136:g.9810A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2151A>C
ENST00000483004.2:c.1543A>C	ENSP00000419887.2:p.Lys515Gln
ENST00000698628.1:c.1624+350A>C	ENSP00000513848.1:n.1624+350A>C
ENST00000698629.1:n.1936A>C
ENST00000698630.1:n.2475A>C
ENST00000698631.1:n.2476A>C
ENST00000698632.1:n.3270A>C
ENST00000698633.1:n.3160A>C
ENST00000698636.1:n.1981A>C
ENST00000425368.7:c.1759A>C MANE Select	ENSP00000416561.2:p.Lys587Gln
ENST00000425368.6:c.1759A>C	ENSP00000416561.2:p.Lys587Gln
ENST00000456570.5:c.3265A>C	ENSP00000410815.1:p.Lys1089Gln
ENST00000467360.1:n.885A>C
ENST00000477310.1:c.2812A>C	ENSP00000418996.1:p.Lys938Gln
ENST00000483004.1:c.381A>C
NM_001710.5:c.1759A>C , LRG_136t1:c.1759A>C	NP_001701.2:p.Lys587Gln
NM_001710.6:c.1759A>C MANE Select	NP_001701.2:p.Lys587Gln