Canonical Allele Identifier: CA363408969

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918470G>T (hg19) ; chr6:g.31950693G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950693G>T , CM000668.2:g.31950693G>T	GRCh38
NC_000006.11:g.31918470G>T , CM000668.1:g.31918470G>T	GRCh37
NC_000006.10:g.32026449G>T	NCBI36
NG_008191.1:g.9750G>T , LRG_136:g.9750G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2091G>T
ENST00000483004.2:c.1483G>T	ENSP00000419887.2:p.Ala495Ser
ENST00000698628.1:c.1624+290G>T	ENSP00000513848.1:n.1624+290G>T
ENST00000698629.1:n.1876G>T
ENST00000698630.1:n.2415G>T
ENST00000698631.1:n.2416G>T
ENST00000698632.1:n.3210G>T
ENST00000698633.1:n.3100G>T
ENST00000698636.1:n.1921G>T
ENST00000425368.7:c.1699G>T MANE Select	ENSP00000416561.2:p.Ala567Ser
ENST00000425368.6:c.1699G>T	ENSP00000416561.2:p.Ala567Ser
ENST00000456570.5:c.3205G>T	ENSP00000410815.1:p.Ala1069Ser
ENST00000467360.1:n.825G>T
ENST00000477310.1:c.2752G>T	ENSP00000418996.1:p.Ala918Ser
ENST00000483004.1:c.321G>T
NM_001710.5:c.1699G>T , LRG_136t1:c.1699G>T	NP_001701.2:p.Ala567Ser
NM_001710.6:c.1699G>T MANE Select	NP_001701.2:p.Ala567Ser