Canonical Allele Identifier: CA2678073606

Gene: CFB

Linked Data

• gnomAD v4: 6-31950422-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950422G>T , CM000668.2:g.31950422G>T	GRCh38
NC_000006.11:g.31918199G>T , CM000668.1:g.31918199G>T	GRCh37
NC_000006.10:g.32026178G>T	NCBI36
NG_008191.1:g.9479G>T , LRG_136:g.9479G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.1820G>T
ENST00000483004.2:c.1409-197G>T	ENSP00000419887.2:n.1409-197G>T
ENST00000698628.1:c.1624+19G>T	ENSP00000513848.1:n.1624+19G>T
ENST00000698629.1:n.1801+19G>T
ENST00000698630.1:n.2340+19G>T
ENST00000698631.1:n.2341+19G>T
ENST00000698632.1:n.2939G>T
ENST00000698633.1:n.2829G>T
ENST00000698636.1:n.1846+19G>T
ENST00000425368.7:c.1624+19G>T MANE Select	ENSP00000416561.2:n.1624+19G>T
ENST00000425368.6:c.1624+19G>T	ENSP00000416561.2:n.1624+19G>T
ENST00000452035.6:n.1643G>T
ENST00000456570.5:c.3130+19G>T	ENSP00000410815.1:n.3130+19G>T
ENST00000467360.1:n.554G>T
ENST00000477310.1:c.2677+19G>T	ENSP00000418996.1:n.2677+19G>T
ENST00000483004.1:c.247-197G>T
NM_001710.5:c.1624+19G>T , LRG_136t1:c.1624+19G>T	NP_001701.2:n.1624+19G>T
NM_001710.6:c.1624+19G>T MANE Select	NP_001701.2:n.1624+19G>T