Canonical Allele Identifier: CA449687220

Gene: CFB

Linked Data

• gnomAD v4: 6-31950916-T-C
• MyVariant Identifiers: chr6:g.31918693T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950916T>C , CM000668.2:g.31950916T>C	GRCh38
NC_000006.11:g.31918693T>C , CM000668.1:g.31918693T>C	GRCh37
NC_000006.10:g.32026672T>C	NCBI36
NG_008191.1:g.9973T>C , LRG_136:g.9973T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2314T>C
ENST00000483004.2:c.1611T>C	ENSP00000419887.2:p.Leu537=
ENST00000698628.1:c.1625-228T>C	ENSP00000513848.1:n.1625-228T>C
ENST00000698629.1:n.2099T>C
ENST00000698630.1:n.2543T>C
ENST00000698631.1:n.2544T>C
ENST00000698632.1:n.3433T>C
ENST00000698633.1:n.3323T>C
ENST00000425368.7:c.1827T>C MANE Select	ENSP00000416561.2:p.Leu609=
ENST00000425368.6:c.1827T>C	ENSP00000416561.2:p.Leu609=
ENST00000456570.5:c.3333T>C	ENSP00000410815.1:p.Leu1111=
ENST00000467360.1:n.953T>C
ENST00000477310.1:c.2880T>C	ENSP00000418996.1:p.Leu960=
ENST00000482312.1:n.43T>C
ENST00000483004.1:c.449T>C
NM_001710.5:c.1827T>C , LRG_136t1:c.1827T>C	NP_001701.2:p.Leu609=
NM_001710.6:c.1827T>C MANE Select	NP_001701.2:p.Leu609=