Canonical Allele Identifier: CA363409487

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918549G>T (hg19) ; chr6:g.31950772G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950772G>T , CM000668.2:g.31950772G>T	GRCh38
NC_000006.11:g.31918549G>T , CM000668.1:g.31918549G>T	GRCh37
NC_000006.10:g.32026528G>T	NCBI36
NG_008191.1:g.9829G>T , LRG_136:g.9829G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2170G>T
ENST00000483004.2:c.1562G>T	ENSP00000419887.2:p.Arg521Met
ENST00000698628.1:c.1624+369G>T	ENSP00000513848.1:n.1624+369G>T
ENST00000698629.1:n.1955G>T
ENST00000698630.1:n.2494G>T
ENST00000698631.1:n.2495G>T
ENST00000698632.1:n.3289G>T
ENST00000698633.1:n.3179G>T
ENST00000698636.1:n.2000G>T
ENST00000425368.7:c.1778G>T MANE Select	ENSP00000416561.2:p.Arg593Met
ENST00000425368.6:c.1778G>T	ENSP00000416561.2:p.Arg593Met
ENST00000456570.5:c.3284G>T	ENSP00000410815.1:p.Arg1095Met
ENST00000467360.1:n.904G>T
ENST00000477310.1:c.2831G>T	ENSP00000418996.1:p.Arg944Met
ENST00000483004.1:c.400G>T
NM_001710.5:c.1778G>T , LRG_136t1:c.1778G>T	NP_001701.2:p.Arg593Met
NM_001710.6:c.1778G>T MANE Select	NP_001701.2:p.Arg593Met