Canonical Allele Identifier: CA12187929

Gene: CFB

Linked Data

• ClinVar Variation Id: 1285918
• ClinVar RCV Id: RCV001708212
• dbSNP Id: rs537160
• gnomAD v2: 6-31916400-A-G
• gnomAD v3: 6-31948623-A-G
• gnomAD v4: 6-31948623-A-G
• MyVariant Identifiers: chr6:g.31916400A>G (hg19) ; chr6:g.31948623A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31948623A>G , CM000668.2:g.31948623A>G	GRCh38
NC_000006.11:g.31916400A>G , CM000668.1:g.31916400A>G	GRCh37
NC_000006.10:g.32024379A>G	NCBI36
NG_008191.1:g.7680A>G , LRG_136:g.7680A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1213+111A>G
ENST00000483004.2:c.1036+111A>G	ENSP00000419887.2:n.1036+111A>G
ENST00000497841.6:c.1036+111A>G	ENSP00000513847.1:n.1036+111A>G
ENST00000698628.1:c.1036+111A>G	ENSP00000513848.1:n.1036+111A>G
ENST00000698629.1:n.1213+111A>G
ENST00000698630.1:n.1752+111A>G
ENST00000698631.1:n.1753+111A>G
ENST00000698632.1:n.2332+111A>G
ENST00000698633.1:n.2147+111A>G
ENST00000698636.1:n.1258+111A>G
ENST00000425368.7:c.1036+111A>G MANE Select	ENSP00000416561.2:n.1036+111A>G
ENST00000425368.6:c.1036+111A>G	ENSP00000416561.2:n.1036+111A>G
ENST00000452035.6:n.1036+111A>G
ENST00000456570.5:c.2542+111A>G	ENSP00000410815.1:n.2542+111A>G
ENST00000461483.5:n.911+111A>G
ENST00000465750.5:n.155+111A>G
ENST00000477310.1:c.2089+111A>G	ENSP00000418996.1:n.2089+111A>G
ENST00000482886.1:n.53+111A>G
ENST00000497841.5:n.323+111A>G
NM_001710.5:c.1036+111A>G , LRG_136t1:c.1036+111A>G	NP_001701.2:n.1036+111A>G
NM_001710.6:c.1036+111A>G MANE Select	NP_001701.2:n.1036+111A>G