Canonical Allele Identifier: CA449812176

Gene: CFB

Linked Data

• dbSNP Id: rs1248309255
• gnomAD v2: 6-31918517-C-T
• MyVariant Identifiers: chr6:g.31918517C>T (hg19) ; chr6:g.31950740C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950740C>T , CM000668.2:g.31950740C>T	GRCh38
NC_000006.11:g.31918517C>T , CM000668.1:g.31918517C>T	GRCh37
NC_000006.10:g.32026496C>T	NCBI36
NG_008191.1:g.9797C>T , LRG_136:g.9797C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2138C>T
ENST00000483004.2:c.1530C>T	ENSP00000419887.2:p.Leu510=
ENST00000698628.1:c.1624+337C>T	ENSP00000513848.1:n.1624+337C>T
ENST00000698629.1:n.1923C>T
ENST00000698630.1:n.2462C>T
ENST00000698631.1:n.2463C>T
ENST00000698632.1:n.3257C>T
ENST00000698633.1:n.3147C>T
ENST00000698636.1:n.1968C>T
ENST00000425368.7:c.1746C>T MANE Select	ENSP00000416561.2:p.Leu582=
ENST00000425368.6:c.1746C>T	ENSP00000416561.2:p.Leu582=
ENST00000456570.5:c.3252C>T	ENSP00000410815.1:p.Leu1084=
ENST00000467360.1:n.872C>T
ENST00000477310.1:c.2799C>T	ENSP00000418996.1:p.Leu933=
ENST00000483004.1:c.368C>T
NM_001710.5:c.1746C>T , LRG_136t1:c.1746C>T	NP_001701.2:p.Leu582=
NM_001710.6:c.1746C>T MANE Select	NP_001701.2:p.Leu582=