Canonical Allele Identifier: CA363408546

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918396G>C (hg19) ; chr6:g.31950619G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950619G>C , CM000668.2:g.31950619G>C	GRCh38
NC_000006.11:g.31918396G>C , CM000668.1:g.31918396G>C	GRCh37
NC_000006.10:g.32026375G>C	NCBI36
NG_008191.1:g.9676G>C , LRG_136:g.9676G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2017G>C
ENST00000483004.2:c.1409G>C	ENSP00000419887.2:p.Gly470Ala
ENST00000698628.1:c.1624+216G>C	ENSP00000513848.1:n.1624+216G>C
ENST00000698629.1:n.1802G>C
ENST00000698630.1:n.2341G>C
ENST00000698631.1:n.2342G>C
ENST00000698632.1:n.3136G>C
ENST00000698633.1:n.3026G>C
ENST00000698636.1:n.1847G>C
ENST00000425368.7:c.1625G>C MANE Select	ENSP00000416561.2:p.Gly542Ala
ENST00000425368.6:c.1625G>C	ENSP00000416561.2:p.Gly542Ala
ENST00000452035.6:n.1840G>C
ENST00000456570.5:c.3131G>C	ENSP00000410815.1:p.Gly1044Ala
ENST00000467360.1:n.751G>C
ENST00000477310.1:c.2678G>C	ENSP00000418996.1:p.Gly893Ala
ENST00000483004.1:c.247G>C
NM_001710.5:c.1625G>C , LRG_136t1:c.1625G>C	NP_001701.2:p.Gly542Ala
NM_001710.6:c.1625G>C MANE Select	NP_001701.2:p.Gly542Ala