Canonical Allele Identifier: CA2678073759

Gene: CFB

Linked Data

• gnomAD v4: 6-31950512-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950512G>T , CM000668.2:g.31950512G>T	GRCh38
NC_000006.11:g.31918289G>T , CM000668.1:g.31918289G>T	GRCh37
NC_000006.10:g.32026268G>T	NCBI36
NG_008191.1:g.9569G>T , LRG_136:g.9569G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.1910G>T
ENST00000483004.2:c.1409-107G>T	ENSP00000419887.2:n.1409-107G>T
ENST00000698628.1:c.1624+109G>T	ENSP00000513848.1:n.1624+109G>T
ENST00000698629.1:n.1802-107G>T
ENST00000698630.1:n.2341-107G>T
ENST00000698631.1:n.2342-107G>T
ENST00000698632.1:n.3029G>T
ENST00000698633.1:n.2919G>T
ENST00000698636.1:n.1847-107G>T
ENST00000425368.7:c.1625-107G>T MANE Select	ENSP00000416561.2:n.1625-107G>T
ENST00000425368.6:c.1625-107G>T	ENSP00000416561.2:n.1625-107G>T
ENST00000452035.6:n.1733G>T
ENST00000456570.5:c.3131-107G>T	ENSP00000410815.1:n.3131-107G>T
ENST00000467360.1:n.644G>T
ENST00000477310.1:c.2678-107G>T	ENSP00000418996.1:n.2678-107G>T
ENST00000483004.1:c.247-107G>T
NM_001710.5:c.1625-107G>T , LRG_136t1:c.1625-107G>T	NP_001701.2:n.1625-107G>T
NM_001710.6:c.1625-107G>T MANE Select	NP_001701.2:n.1625-107G>T