Canonical Allele Identifier: CA363409335

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918534A>C (hg19) ; chr6:g.31950757A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950757A>C , CM000668.2:g.31950757A>C	GRCh38
NC_000006.11:g.31918534A>C , CM000668.1:g.31918534A>C	GRCh37
NC_000006.10:g.32026513A>C	NCBI36
NG_008191.1:g.9814A>C , LRG_136:g.9814A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2155A>C
ENST00000483004.2:c.1547A>C	ENSP00000419887.2:p.Tyr516Ser
ENST00000698628.1:c.1624+354A>C	ENSP00000513848.1:n.1624+354A>C
ENST00000698629.1:n.1940A>C
ENST00000698630.1:n.2479A>C
ENST00000698631.1:n.2480A>C
ENST00000698632.1:n.3274A>C
ENST00000698633.1:n.3164A>C
ENST00000698636.1:n.1985A>C
ENST00000425368.7:c.1763A>C MANE Select	ENSP00000416561.2:p.Tyr588Ser
ENST00000425368.6:c.1763A>C	ENSP00000416561.2:p.Tyr588Ser
ENST00000456570.5:c.3269A>C	ENSP00000410815.1:p.Tyr1090Ser
ENST00000467360.1:n.889A>C
ENST00000477310.1:c.2816A>C	ENSP00000418996.1:p.Tyr939Ser
ENST00000483004.1:c.385A>C
NM_001710.5:c.1763A>C , LRG_136t1:c.1763A>C	NP_001701.2:p.Tyr588Ser
NM_001710.6:c.1763A>C MANE Select	NP_001701.2:p.Tyr588Ser