Canonical Allele Identifier: CA3728422

Gene: CFB

Linked Data

• ClinVar Variation Id: 1996933
• ClinVar RCV Id: RCV002807130
• dbSNP Id: rs748063426
• ExAC: 6:31918415 G / C
• gnomAD v2: 6-31918415-G-C
• gnomAD v4: 6-31950638-G-C
• MyVariant Identifiers: chr6:g.31918415G>C (hg19) ; chr6:g.31950638G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950638G>C , CM000668.2:g.31950638G>C	GRCh38
NC_000006.11:g.31918415G>C , CM000668.1:g.31918415G>C	GRCh37
NC_000006.10:g.32026394G>C	NCBI36
NG_008191.1:g.9695G>C , LRG_136:g.9695G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2036G>C
ENST00000483004.2:c.1428G>C	ENSP00000419887.2:p.Leu476=
ENST00000698628.1:c.1624+235G>C	ENSP00000513848.1:n.1624+235G>C
ENST00000698629.1:n.1821G>C
ENST00000698630.1:n.2360G>C
ENST00000698631.1:n.2361G>C
ENST00000698632.1:n.3155G>C
ENST00000698633.1:n.3045G>C
ENST00000698636.1:n.1866G>C
ENST00000425368.7:c.1644G>C MANE Select	ENSP00000416561.2:p.Leu548=
ENST00000425368.6:c.1644G>C	ENSP00000416561.2:p.Leu548=
ENST00000452035.6:n.1859G>C
ENST00000456570.5:c.3150G>C	ENSP00000410815.1:p.Leu1050=
ENST00000467360.1:n.770G>C
ENST00000477310.1:c.2697G>C	ENSP00000418996.1:p.Leu899=
ENST00000483004.1:c.266G>C
NM_001710.5:c.1644G>C , LRG_136t1:c.1644G>C	NP_001701.2:p.Leu548=
NM_001710.6:c.1644G>C MANE Select	NP_001701.2:p.Leu548=