Canonical Allele Identifier: CA363408771

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918437C>A (hg19) ; chr6:g.31950660C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950660C>A , CM000668.2:g.31950660C>A	GRCh38
NC_000006.11:g.31918437C>A , CM000668.1:g.31918437C>A	GRCh37
NC_000006.10:g.32026416C>A	NCBI36
NG_008191.1:g.9717C>A , LRG_136:g.9717C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2058C>A
ENST00000483004.2:c.1450C>A	ENSP00000419887.2:p.His484Asn
ENST00000698628.1:c.1624+257C>A	ENSP00000513848.1:n.1624+257C>A
ENST00000698629.1:n.1843C>A
ENST00000698630.1:n.2382C>A
ENST00000698631.1:n.2383C>A
ENST00000698632.1:n.3177C>A
ENST00000698633.1:n.3067C>A
ENST00000698636.1:n.1888C>A
ENST00000425368.7:c.1666C>A MANE Select	ENSP00000416561.2:p.His556Asn
ENST00000425368.6:c.1666C>A	ENSP00000416561.2:p.His556Asn
ENST00000456570.5:c.3172C>A	ENSP00000410815.1:p.His1058Asn
ENST00000467360.1:n.792C>A
ENST00000477310.1:c.2719C>A	ENSP00000418996.1:p.His907Asn
ENST00000483004.1:c.288C>A
NM_001710.5:c.1666C>A , LRG_136t1:c.1666C>A	NP_001701.2:p.His556Asn
NM_001710.6:c.1666C>A MANE Select	NP_001701.2:p.His556Asn