Canonical Allele Identifier: CA3728460

Gene: CFB

Linked Data

• dbSNP Id: rs753921757
• ExAC: 6:31918671 G / T
• gnomAD v2: 6-31918671-G-T
• MyVariant Identifiers: chr6:g.31918671G>T (hg19) ; chr6:g.31950894G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950894G>T , CM000668.2:g.31950894G>T	GRCh38
NC_000006.11:g.31918671G>T , CM000668.1:g.31918671G>T	GRCh37
NC_000006.10:g.32026650G>T	NCBI36
NG_008191.1:g.9951G>T , LRG_136:g.9951G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2292G>T
ENST00000483004.2:c.1589G>T	ENSP00000419887.2:p.Gly530Val
ENST00000698628.1:c.1625-250G>T	ENSP00000513848.1:n.1625-250G>T
ENST00000698629.1:n.2077G>T
ENST00000698630.1:n.2521G>T
ENST00000698631.1:n.2522G>T
ENST00000698632.1:n.3411G>T
ENST00000698633.1:n.3301G>T
ENST00000425368.7:c.1805G>T MANE Select	ENSP00000416561.2:p.Gly602Val
ENST00000425368.6:c.1805G>T	ENSP00000416561.2:p.Gly602Val
ENST00000456570.5:c.3311G>T	ENSP00000410815.1:p.Gly1104Val
ENST00000467360.1:n.931G>T
ENST00000477310.1:c.2858G>T	ENSP00000418996.1:p.Gly953Val
ENST00000482312.1:n.21G>T
ENST00000483004.1:c.427G>T
NM_001710.5:c.1805G>T , LRG_136t1:c.1805G>T	NP_001701.2:p.Gly602Val
NM_001710.6:c.1805G>T MANE Select	NP_001701.2:p.Gly602Val