Canonical Allele Identifier: CA1619378381

Gene: CFB

Linked Data

• dbSNP Id: rs1771689445
• gnomAD v4: 6-31950491-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950491C>T , CM000668.2:g.31950491C>T	GRCh38
NC_000006.11:g.31918268C>T , CM000668.1:g.31918268C>T	GRCh37
NC_000006.10:g.32026247C>T	NCBI36
NG_008191.1:g.9548C>T , LRG_136:g.9548C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1889C>T
ENST00000483004.2:c.1409-128C>T	ENSP00000419887.2:n.1409-128C>T
ENST00000698628.1:c.1624+88C>T	ENSP00000513848.1:n.1624+88C>T
ENST00000698629.1:n.1801+88C>T
ENST00000698630.1:n.2340+88C>T
ENST00000698631.1:n.2341+88C>T
ENST00000698632.1:n.3008C>T
ENST00000698633.1:n.2898C>T
ENST00000698636.1:n.1846+88C>T
ENST00000425368.7:c.1624+88C>T MANE Select	ENSP00000416561.2:n.1624+88C>T
ENST00000425368.6:c.1624+88C>T	ENSP00000416561.2:n.1624+88C>T
ENST00000452035.6:n.1712C>T
ENST00000456570.5:c.3130+88C>T	ENSP00000410815.1:n.3130+88C>T
ENST00000467360.1:n.623C>T
ENST00000477310.1:c.2677+88C>T	ENSP00000418996.1:n.2677+88C>T
ENST00000483004.1:c.247-128C>T
NM_001710.5:c.1624+88C>T , LRG_136t1:c.1624+88C>T	NP_001701.2:n.1624+88C>T
NM_001710.6:c.1624+88C>T MANE Select	NP_001701.2:n.1624+88C>T