Canonical Allele Identifier: CA363408825

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918446T>C (hg19) ; chr6:g.31950669T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950669T>C , CM000668.2:g.31950669T>C	GRCh38
NC_000006.11:g.31918446T>C , CM000668.1:g.31918446T>C	GRCh37
NC_000006.10:g.32026425T>C	NCBI36
NG_008191.1:g.9726T>C , LRG_136:g.9726T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2067T>C
ENST00000483004.2:c.1459T>C	ENSP00000419887.2:p.Tyr487His
ENST00000698628.1:c.1624+266T>C	ENSP00000513848.1:n.1624+266T>C
ENST00000698629.1:n.1852T>C
ENST00000698630.1:n.2391T>C
ENST00000698631.1:n.2392T>C
ENST00000698632.1:n.3186T>C
ENST00000698633.1:n.3076T>C
ENST00000698636.1:n.1897T>C
ENST00000425368.7:c.1675T>C MANE Select	ENSP00000416561.2:p.Tyr559His
ENST00000425368.6:c.1675T>C	ENSP00000416561.2:p.Tyr559His
ENST00000456570.5:c.3181T>C	ENSP00000410815.1:p.Tyr1061His
ENST00000467360.1:n.801T>C
ENST00000477310.1:c.2728T>C	ENSP00000418996.1:p.Tyr910His
ENST00000483004.1:c.297T>C
NM_001710.5:c.1675T>C , LRG_136t1:c.1675T>C	NP_001701.2:p.Tyr559His
NM_001710.6:c.1675T>C MANE Select	NP_001701.2:p.Tyr559His