Canonical Allele Identifier: CA136897928

Gene: CFB

Linked Data

• ClinVar Variation Id: 2955658
• ClinVar RCV Id: RCV003810809
• dbSNP Id: rs749815658
• gnomAD v2: 6-31918680-G-A
• gnomAD v4: 6-31950903-G-A
• COSMIC: COSM3624887
• MyVariant Identifiers: chr6:g.31918680G>A (hg19) ; chr6:g.31950903G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950903G>A , CM000668.2:g.31950903G>A	GRCh38
NC_000006.11:g.31918680G>A , CM000668.1:g.31918680G>A	GRCh37
NC_000006.10:g.32026659G>A	NCBI36
NG_008191.1:g.9960G>A , LRG_136:g.9960G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2301G>A
ENST00000483004.2:c.1598G>A	ENSP00000419887.2:p.Arg533Gln
ENST00000698628.1:c.1625-241G>A	ENSP00000513848.1:n.1625-241G>A
ENST00000698629.1:n.2086G>A
ENST00000698630.1:n.2530G>A
ENST00000698631.1:n.2531G>A
ENST00000698632.1:n.3420G>A
ENST00000698633.1:n.3310G>A
ENST00000425368.7:c.1814G>A MANE Select	ENSP00000416561.2:p.Arg605Gln
ENST00000425368.6:c.1814G>A	ENSP00000416561.2:p.Arg605Gln
ENST00000456570.5:c.3320G>A	ENSP00000410815.1:p.Arg1107Gln
ENST00000467360.1:n.940G>A
ENST00000477310.1:c.2867G>A	ENSP00000418996.1:p.Arg956Gln
ENST00000482312.1:n.30G>A
ENST00000483004.1:c.436G>A
NM_001710.5:c.1814G>A , LRG_136t1:c.1814G>A	NP_001701.2:p.Arg605Gln
NM_001710.6:c.1814G>A MANE Select	NP_001701.2:p.Arg605Gln