Canonical Allele Identifier: CA566692910

Gene: CFB

Linked Data

• dbSNP Id: rs1466127117
• gnomAD v2: 6-31918367-AAG-A
• gnomAD v4: 6-31950590-AAG-A
• MyVariant Identifiers: chr6:g.31918368_31918369del (hg19) ; chr6:g.31950591_31950592del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950593_31950594del , CM000668.2:g.31950593_31950594del	GRCh38
NC_000006.11:g.31918370_31918371del , CM000668.1:g.31918370_31918371del	GRCh37
NC_000006.10:g.32026349_32026350del	NCBI36
NG_008191.1:g.9650_9651del , LRG_136:g.9650_9651del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1991_1992del
ENST00000483004.2:c.1409-26_1409-25del	ENSP00000419887.2:n.1409-26_1409-25del
ENST00000698628.1:c.1624+190_1624+191del	ENSP00000513848.1:n.1624+190_1624+191del
ENST00000698629.1:n.1802-26_1802-25del
ENST00000698630.1:n.2341-26_2341-25del
ENST00000698631.1:n.2342-26_2342-25del
ENST00000698632.1:n.3110_3111del
ENST00000698633.1:n.3000_3001del
ENST00000698636.1:n.1847-26_1847-25del
ENST00000425368.7:c.1625-26_1625-25del MANE Select	ENSP00000416561.2:n.1625-26_1625-25del
ENST00000425368.6:c.1625-26_1625-25del	ENSP00000416561.2:n.1625-26_1625-25del
ENST00000452035.6:n.1814_1815del
ENST00000456570.5:c.3131-26_3131-25del	ENSP00000410815.1:n.3131-26_3131-25del
ENST00000467360.1:n.725_726del
ENST00000477310.1:c.2678-26_2678-25del	ENSP00000418996.1:n.2678-26_2678-25del
ENST00000483004.1:c.247-26_247-25del
NM_001710.5:c.1625-26_1625-25del , LRG_136t1:c.1625-26_1625-25del	NP_001701.2:n.1625-26_1625-25del
NM_001710.6:c.1625-26_1625-25del MANE Select	NP_001701.2:n.1625-26_1625-25del