Canonical Allele Identifier: CA363408638

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918414T>A (hg19) ; chr6:g.31950637T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950637T>A , CM000668.2:g.31950637T>A	GRCh38
NC_000006.11:g.31918414T>A , CM000668.1:g.31918414T>A	GRCh37
NC_000006.10:g.32026393T>A	NCBI36
NG_008191.1:g.9694T>A , LRG_136:g.9694T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2035T>A
ENST00000483004.2:c.1427T>A	ENSP00000419887.2:p.Leu476Gln
ENST00000698628.1:c.1624+234T>A	ENSP00000513848.1:n.1624+234T>A
ENST00000698629.1:n.1820T>A
ENST00000698630.1:n.2359T>A
ENST00000698631.1:n.2360T>A
ENST00000698632.1:n.3154T>A
ENST00000698633.1:n.3044T>A
ENST00000698636.1:n.1865T>A
ENST00000425368.7:c.1643T>A MANE Select	ENSP00000416561.2:p.Leu548Gln
ENST00000425368.6:c.1643T>A	ENSP00000416561.2:p.Leu548Gln
ENST00000452035.6:n.1858T>A
ENST00000456570.5:c.3149T>A	ENSP00000410815.1:p.Leu1050Gln
ENST00000467360.1:n.769T>A
ENST00000477310.1:c.2696T>A	ENSP00000418996.1:p.Leu899Gln
ENST00000483004.1:c.265T>A
NM_001710.5:c.1643T>A , LRG_136t1:c.1643T>A	NP_001701.2:p.Leu548Gln
NM_001710.6:c.1643T>A MANE Select	NP_001701.2:p.Leu548Gln