Canonical Allele Identifier: CA2573140259

Gene: CFB

Linked Data

• ClinVar Variation Id: 1604897
• ClinVar RCV Id: RCV002134866
• dbSNP Id: rs2151786883

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950601C>T , CM000668.2:g.31950601C>T	GRCh38
NC_000006.11:g.31918378C>T , CM000668.1:g.31918378C>T	GRCh37
NC_000006.10:g.32026357C>T	NCBI36
NG_008191.1:g.9658C>T , LRG_136:g.9658C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1999C>T
ENST00000483004.2:c.1409-18C>T	ENSP00000419887.2:n.1409-18C>T
ENST00000698628.1:c.1624+198C>T	ENSP00000513848.1:n.1624+198C>T
ENST00000698629.1:n.1802-18C>T
ENST00000698630.1:n.2341-18C>T
ENST00000698631.1:n.2342-18C>T
ENST00000698632.1:n.3118C>T
ENST00000698633.1:n.3008C>T
ENST00000698636.1:n.1847-18C>T
ENST00000425368.7:c.1625-18C>T MANE Select	ENSP00000416561.2:n.1625-18C>T
ENST00000425368.6:c.1625-18C>T	ENSP00000416561.2:n.1625-18C>T
ENST00000452035.6:n.1822C>T
ENST00000456570.5:c.3131-18C>T	ENSP00000410815.1:n.3131-18C>T
ENST00000467360.1:n.733C>T
ENST00000477310.1:c.2678-18C>T	ENSP00000418996.1:n.2678-18C>T
ENST00000483004.1:c.247-18C>T
NM_001710.5:c.1625-18C>T , LRG_136t1:c.1625-18C>T	NP_001701.2:n.1625-18C>T
NM_001710.6:c.1625-18C>T MANE Select	NP_001701.2:n.1625-18C>T