Canonical Allele Identifier: CA363409800

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918670G>T (hg19) ; chr6:g.31950893G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950893G>T , CM000668.2:g.31950893G>T	GRCh38
NC_000006.11:g.31918670G>T , CM000668.1:g.31918670G>T	GRCh37
NC_000006.10:g.32026649G>T	NCBI36
NG_008191.1:g.9950G>T , LRG_136:g.9950G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2291G>T
ENST00000483004.2:c.1588G>T	ENSP00000419887.2:p.Gly530Ter
ENST00000698628.1:c.1625-251G>T	ENSP00000513848.1:n.1625-251G>T
ENST00000698629.1:n.2076G>T
ENST00000698630.1:n.2520G>T
ENST00000698631.1:n.2521G>T
ENST00000698632.1:n.3410G>T
ENST00000698633.1:n.3300G>T
ENST00000425368.7:c.1804G>T MANE Select	ENSP00000416561.2:p.Gly602Ter
ENST00000425368.6:c.1804G>T	ENSP00000416561.2:p.Gly602Ter
ENST00000456570.5:c.3310G>T	ENSP00000410815.1:p.Gly1104Ter
ENST00000467360.1:n.930G>T
ENST00000477310.1:c.2857G>T	ENSP00000418996.1:p.Gly953Ter
ENST00000482312.1:n.20G>T
ENST00000483004.1:c.426G>T
NM_001710.5:c.1804G>T , LRG_136t1:c.1804G>T	NP_001701.2:p.Gly602Ter
NM_001710.6:c.1804G>T MANE Select	NP_001701.2:p.Gly602Ter