Canonical Allele Identifier: CA363408795

Gene: CFB

Linked Data

• gnomAD v4: 6-31950663-C-T
• MyVariant Identifiers: chr6:g.31918440C>T (hg19) ; chr6:g.31950663C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950663C>T , CM000668.2:g.31950663C>T	GRCh38
NC_000006.11:g.31918440C>T , CM000668.1:g.31918440C>T	GRCh37
NC_000006.10:g.32026419C>T	NCBI36
NG_008191.1:g.9720C>T , LRG_136:g.9720C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2061C>T
ENST00000483004.2:c.1453C>T	ENSP00000419887.2:p.Pro485Ser
ENST00000698628.1:c.1624+260C>T	ENSP00000513848.1:n.1624+260C>T
ENST00000698629.1:n.1846C>T
ENST00000698630.1:n.2385C>T
ENST00000698631.1:n.2386C>T
ENST00000698632.1:n.3180C>T
ENST00000698633.1:n.3070C>T
ENST00000698636.1:n.1891C>T
ENST00000425368.7:c.1669C>T MANE Select	ENSP00000416561.2:p.Pro557Ser
ENST00000425368.6:c.1669C>T	ENSP00000416561.2:p.Pro557Ser
ENST00000456570.5:c.3175C>T	ENSP00000410815.1:p.Pro1059Ser
ENST00000467360.1:n.795C>T
ENST00000477310.1:c.2722C>T	ENSP00000418996.1:p.Pro908Ser
ENST00000483004.1:c.291C>T
NM_001710.5:c.1669C>T , LRG_136t1:c.1669C>T	NP_001701.2:p.Pro557Ser
NM_001710.6:c.1669C>T MANE Select	NP_001701.2:p.Pro557Ser