Canonical Allele Identifier: CA363408912

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918459G>T (hg19) ; chr6:g.31950682G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950682G>T , CM000668.2:g.31950682G>T	GRCh38
NC_000006.11:g.31918459G>T , CM000668.1:g.31918459G>T	GRCh37
NC_000006.10:g.32026438G>T	NCBI36
NG_008191.1:g.9739G>T , LRG_136:g.9739G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2080G>T
ENST00000483004.2:c.1472G>T	ENSP00000419887.2:p.Gly491Val
ENST00000698628.1:c.1624+279G>T	ENSP00000513848.1:n.1624+279G>T
ENST00000698629.1:n.1865G>T
ENST00000698630.1:n.2404G>T
ENST00000698631.1:n.2405G>T
ENST00000698632.1:n.3199G>T
ENST00000698633.1:n.3089G>T
ENST00000698636.1:n.1910G>T
ENST00000425368.7:c.1688G>T MANE Select	ENSP00000416561.2:p.Gly563Val
ENST00000425368.6:c.1688G>T	ENSP00000416561.2:p.Gly563Val
ENST00000456570.5:c.3194G>T	ENSP00000410815.1:p.Gly1065Val
ENST00000467360.1:n.814G>T
ENST00000477310.1:c.2741G>T	ENSP00000418996.1:p.Gly914Val
ENST00000483004.1:c.310G>T
NM_001710.5:c.1688G>T , LRG_136t1:c.1688G>T	NP_001701.2:p.Gly563Val
NM_001710.6:c.1688G>T MANE Select	NP_001701.2:p.Gly563Val