Canonical Allele Identifier: CA363408634

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918413C>A (hg19) ; chr6:g.31950636C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950636C>A , CM000668.2:g.31950636C>A	GRCh38
NC_000006.11:g.31918413C>A , CM000668.1:g.31918413C>A	GRCh37
NC_000006.10:g.32026392C>A	NCBI36
NG_008191.1:g.9693C>A , LRG_136:g.9693C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2034C>A
ENST00000483004.2:c.1426C>A	ENSP00000419887.2:p.Leu476Met
ENST00000698628.1:c.1624+233C>A	ENSP00000513848.1:n.1624+233C>A
ENST00000698629.1:n.1819C>A
ENST00000698630.1:n.2358C>A
ENST00000698631.1:n.2359C>A
ENST00000698632.1:n.3153C>A
ENST00000698633.1:n.3043C>A
ENST00000698636.1:n.1864C>A
ENST00000425368.7:c.1642C>A MANE Select	ENSP00000416561.2:p.Leu548Met
ENST00000425368.6:c.1642C>A	ENSP00000416561.2:p.Leu548Met
ENST00000452035.6:n.1857C>A
ENST00000456570.5:c.3148C>A	ENSP00000410815.1:p.Leu1050Met
ENST00000467360.1:n.768C>A
ENST00000477310.1:c.2695C>A	ENSP00000418996.1:p.Leu899Met
ENST00000483004.1:c.264C>A
NM_001710.5:c.1642C>A , LRG_136t1:c.1642C>A	NP_001701.2:p.Leu548Met
NM_001710.6:c.1642C>A MANE Select	NP_001701.2:p.Leu548Met