Canonical Allele Identifier: CA363409981

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918692T>A (hg19) ; chr6:g.31950915T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950915T>A , CM000668.2:g.31950915T>A	GRCh38
NC_000006.11:g.31918692T>A , CM000668.1:g.31918692T>A	GRCh37
NC_000006.10:g.32026671T>A	NCBI36
NG_008191.1:g.9972T>A , LRG_136:g.9972T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2313T>A
ENST00000483004.2:c.1610T>A	ENSP00000419887.2:p.Leu537His
ENST00000698628.1:c.1625-229T>A	ENSP00000513848.1:n.1625-229T>A
ENST00000698629.1:n.2098T>A
ENST00000698630.1:n.2542T>A
ENST00000698631.1:n.2543T>A
ENST00000698632.1:n.3432T>A
ENST00000698633.1:n.3322T>A
ENST00000425368.7:c.1826T>A MANE Select	ENSP00000416561.2:p.Leu609His
ENST00000425368.6:c.1826T>A	ENSP00000416561.2:p.Leu609His
ENST00000456570.5:c.3332T>A	ENSP00000410815.1:p.Leu1111His
ENST00000467360.1:n.952T>A
ENST00000477310.1:c.2879T>A	ENSP00000418996.1:p.Leu960His
ENST00000482312.1:n.42T>A
ENST00000483004.1:c.448T>A
NM_001710.5:c.1826T>A , LRG_136t1:c.1826T>A	NP_001701.2:p.Leu609His
NM_001710.6:c.1826T>A MANE Select	NP_001701.2:p.Leu609His