Canonical Allele Identifier: CA363388731

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31914270G>T (hg19) ; chr6:g.31946493G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946493G>T , CM000668.2:g.31946493G>T	GRCh38
NC_000006.11:g.31914270G>T , CM000668.1:g.31914270G>T	GRCh37
NC_000006.10:g.32022249G>T	NCBI36
NG_008191.1:g.5550G>T , LRG_136:g.5550G>T
NG_011730.1:g.24005G>T , LRG_26:g.24005G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.362G>T
ENST00000483004.2:c.185G>T	ENSP00000419887.2:p.Cys62Phe
ENST00000497841.6:c.185G>T	ENSP00000513847.1:p.Cys62Phe
ENST00000698628.1:c.185G>T	ENSP00000513848.1:p.Cys62Phe
ENST00000698629.1:n.362G>T
ENST00000698630.1:n.346G>T
ENST00000698631.1:n.341G>T
ENST00000698632.1:n.313G>T
ENST00000698633.1:n.283G>T
ENST00000698636.1:n.407G>T
ENST00000425368.7:c.185G>T MANE Select	ENSP00000416561.2:p.Cys62Phe
ENST00000425368.6:c.185G>T	ENSP00000416561.2:p.Cys62Phe
ENST00000452035.6:n.185G>T
ENST00000456570.5:c.1691G>T	ENSP00000410815.1:p.Cys564Phe
ENST00000460718.5:c.72G>T	ENSP00000417793.1:p.Val24=
ENST00000472581.1:n.432G>T
ENST00000475617.5:c.185G>T	ENSP00000420090.1:p.Cys62Phe
ENST00000477310.1:c.1352-514G>T	ENSP00000418996.1:n.1352-514G>T
NM_001710.5:c.185G>T , LRG_136t1:c.185G>T	NP_001701.2:p.Cys62Phe
NM_001710.6:c.185G>T MANE Select	NP_001701.2:p.Cys62Phe