Canonical Allele Identifier: CA3728579

Gene: CFB

Linked Data

• dbSNP Id: rs767079890
• ExAC: 6:31919618 C / CTGAATGA
• gnomAD v2: 6-31919618-C-CTGAATGA
• gnomAD v4: 6-31951841-C-CTGAATGA
• MyVariant Identifiers: chr6:g.31919618_31919619insTGAATGA (hg19) ; chr6:g.31951841_31951842insTGAATGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951843_31951849dup , CM000668.2:g.31951843_31951849dup	GRCh38
NC_000006.11:g.31919620_31919626dup , CM000668.1:g.31919620_31919626dup	GRCh37
NC_000006.10:g.32027599_32027605dup	NCBI36
NG_008191.1:g.10900_10906dup , LRG_136:g.10900_10906dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2574-32_2574-26dup
ENST00000483004.2:c.1924-32_1924-26dup	ENSP00000419887.2:n.1924-32_1924-26dup
ENST00000698628.1:c.1909-32_1909-26dup	ENSP00000513848.1:n.1909-32_1909-26dup
ENST00000698629.1:n.2359-32_2359-26dup
ENST00000698630.1:n.2856-32_2856-26dup
ENST00000698631.1:n.2857-32_2857-26dup
ENST00000698632.1:n.3945-32_3945-26dup
ENST00000698633.1:n.3835-32_3835-26dup
ENST00000425368.7:c.2140-32_2140-26dup MANE Select	ENSP00000416561.2:n.2140-32_2140-26dup
ENST00000425368.6:c.2140-32_2140-26dup	ENSP00000416561.2:n.2140-32_2140-26dup
ENST00000456570.5:c.3646-32_3646-26dup	ENSP00000410815.1:n.3646-32_3646-26dup
ENST00000477310.1:c.3193-32_3193-26dup	ENSP00000418996.1:n.3193-32_3193-26dup
ENST00000482312.1:n.555-32_555-26dup
ENST00000483004.1:c.762-32_762-26dup
ENST00000498317.1:c.348_354dup
NM_001710.5:c.2140-32_2140-26dup , LRG_136t1:c.2140-32_2140-26dup	NP_001701.2:n.2140-32_2140-26dup
NM_001710.6:c.2140-32_2140-26dup MANE Select	NP_001701.2:n.2140-32_2140-26dup