Canonical Allele Identifier: CA566693484

Gene: CFB

Linked Data

• dbSNP Id: rs1284790389
• gnomAD v2: 6-31919503-G-A
• gnomAD v3: 6-31951726-G-A
• gnomAD v4: 6-31951726-G-A
• MyVariant Identifiers: chr6:g.31919503G>A (hg19) ; chr6:g.31951726G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951726G>A , CM000668.2:g.31951726G>A	GRCh38
NC_000006.11:g.31919503G>A , CM000668.1:g.31919503G>A	GRCh37
NC_000006.10:g.32027482G>A	NCBI36
NG_008191.1:g.10783G>A , LRG_136:g.10783G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2573+122G>A
ENST00000483004.2:c.1923+122G>A	ENSP00000419887.2:n.1923+122G>A
ENST00000698628.1:c.1908+122G>A	ENSP00000513848.1:n.1908+122G>A
ENST00000698629.1:n.2358+122G>A
ENST00000698630.1:n.2855+122G>A
ENST00000698631.1:n.2856+122G>A
ENST00000698632.1:n.3944+122G>A
ENST00000698633.1:n.3834+122G>A
ENST00000425368.7:c.2139+122G>A MANE Select	ENSP00000416561.2:n.2139+122G>A
ENST00000425368.6:c.2139+122G>A	ENSP00000416561.2:n.2139+122G>A
ENST00000456570.5:c.3645+122G>A	ENSP00000410815.1:n.3645+122G>A
ENST00000477310.1:c.3192+122G>A	ENSP00000418996.1:n.3192+122G>A
ENST00000482312.1:n.554+122G>A
ENST00000483004.1:c.761+122G>A
ENST00000498317.1:c.231G>A
NM_001710.5:c.2139+122G>A , LRG_136t1:c.2139+122G>A	NP_001701.2:n.2139+122G>A
NM_001710.6:c.2139+122G>A MANE Select	NP_001701.2:n.2139+122G>A