Canonical Allele Identifier: CA136897755

Gene: CFB

Linked Data

• dbSNP Id: rs142078214
• gnomAD v4: 6-31950758-T-C
• MyVariant Identifiers: chr6:g.31918535T>C (hg19) ; chr6:g.31950758T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950758T>C , CM000668.2:g.31950758T>C	GRCh38
NC_000006.11:g.31918535T>C , CM000668.1:g.31918535T>C	GRCh37
NC_000006.10:g.32026514T>C	NCBI36
NG_008191.1:g.9815T>C , LRG_136:g.9815T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2156T>C
ENST00000483004.2:c.1548T>C	ENSP00000419887.2:p.Tyr516=
ENST00000698628.1:c.1624+355T>C	ENSP00000513848.1:n.1624+355T>C
ENST00000698629.1:n.1941T>C
ENST00000698630.1:n.2480T>C
ENST00000698631.1:n.2481T>C
ENST00000698632.1:n.3275T>C
ENST00000698633.1:n.3165T>C
ENST00000698636.1:n.1986T>C
ENST00000425368.7:c.1764T>C MANE Select	ENSP00000416561.2:p.Tyr588=
ENST00000425368.6:c.1764T>C	ENSP00000416561.2:p.Tyr588=
ENST00000456570.5:c.3270T>C	ENSP00000410815.1:p.Tyr1090=
ENST00000467360.1:n.890T>C
ENST00000477310.1:c.2817T>C	ENSP00000418996.1:p.Tyr939=
ENST00000483004.1:c.386T>C
NM_001710.5:c.1764T>C , LRG_136t1:c.1764T>C	NP_001701.2:p.Tyr588=
NM_001710.6:c.1764T>C MANE Select	NP_001701.2:p.Tyr588=