Canonical Allele Identifier: CA363409001

Gene: CFB

Linked Data

• gnomAD v4: 6-31950699-A-T
• MyVariant Identifiers: chr6:g.31918476A>T (hg19) ; chr6:g.31950699A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950699A>T , CM000668.2:g.31950699A>T	GRCh38
NC_000006.11:g.31918476A>T , CM000668.1:g.31918476A>T	GRCh37
NC_000006.10:g.32026455A>T	NCBI36
NG_008191.1:g.9756A>T , LRG_136:g.9756A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2097A>T
ENST00000483004.2:c.1489A>T	ENSP00000419887.2:p.Ile497Phe
ENST00000698628.1:c.1624+296A>T	ENSP00000513848.1:n.1624+296A>T
ENST00000698629.1:n.1882A>T
ENST00000698630.1:n.2421A>T
ENST00000698631.1:n.2422A>T
ENST00000698632.1:n.3216A>T
ENST00000698633.1:n.3106A>T
ENST00000698636.1:n.1927A>T
ENST00000425368.7:c.1705A>T MANE Select	ENSP00000416561.2:p.Ile569Phe
ENST00000425368.6:c.1705A>T	ENSP00000416561.2:p.Ile569Phe
ENST00000456570.5:c.3211A>T	ENSP00000410815.1:p.Ile1071Phe
ENST00000467360.1:n.831A>T
ENST00000477310.1:c.2758A>T	ENSP00000418996.1:p.Ile920Phe
ENST00000483004.1:c.327A>T
NM_001710.5:c.1705A>T , LRG_136t1:c.1705A>T	NP_001701.2:p.Ile569Phe
NM_001710.6:c.1705A>T MANE Select	NP_001701.2:p.Ile569Phe