Canonical Allele Identifier: CA363408949

Gene: CFB

Linked Data

• gnomAD v4: 6-31950689-A-T
• MyVariant Identifiers: chr6:g.31918466A>T (hg19) ; chr6:g.31950689A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950689A>T , CM000668.2:g.31950689A>T	GRCh38
NC_000006.11:g.31918466A>T , CM000668.1:g.31918466A>T	GRCh37
NC_000006.10:g.32026445A>T	NCBI36
NG_008191.1:g.9746A>T , LRG_136:g.9746A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2087A>T
ENST00000483004.2:c.1479A>T	ENSP00000419887.2:p.Lys493Asn
ENST00000698628.1:c.1624+286A>T	ENSP00000513848.1:n.1624+286A>T
ENST00000698629.1:n.1872A>T
ENST00000698630.1:n.2411A>T
ENST00000698631.1:n.2412A>T
ENST00000698632.1:n.3206A>T
ENST00000698633.1:n.3096A>T
ENST00000698636.1:n.1917A>T
ENST00000425368.7:c.1695A>T MANE Select	ENSP00000416561.2:p.Lys565Asn
ENST00000425368.6:c.1695A>T	ENSP00000416561.2:p.Lys565Asn
ENST00000456570.5:c.3201A>T	ENSP00000410815.1:p.Lys1067Asn
ENST00000467360.1:n.821A>T
ENST00000477310.1:c.2748A>T	ENSP00000418996.1:p.Lys916Asn
ENST00000483004.1:c.317A>T
NM_001710.5:c.1695A>T , LRG_136t1:c.1695A>T	NP_001701.2:p.Lys565Asn
NM_001710.6:c.1695A>T MANE Select	NP_001701.2:p.Lys565Asn