Canonical Allele Identifier: CA363409116

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918497G>T (hg19) ; chr6:g.31950720G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950720G>T , CM000668.2:g.31950720G>T	GRCh38
NC_000006.11:g.31918497G>T , CM000668.1:g.31918497G>T	GRCh37
NC_000006.10:g.32026476G>T	NCBI36
NG_008191.1:g.9777G>T , LRG_136:g.9777G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2118G>T
ENST00000483004.2:c.1510G>T	ENSP00000419887.2:p.Asp504Tyr
ENST00000698628.1:c.1624+317G>T	ENSP00000513848.1:n.1624+317G>T
ENST00000698629.1:n.1903G>T
ENST00000698630.1:n.2442G>T
ENST00000698631.1:n.2443G>T
ENST00000698632.1:n.3237G>T
ENST00000698633.1:n.3127G>T
ENST00000698636.1:n.1948G>T
ENST00000425368.7:c.1726G>T MANE Select	ENSP00000416561.2:p.Asp576Tyr
ENST00000425368.6:c.1726G>T	ENSP00000416561.2:p.Asp576Tyr
ENST00000456570.5:c.3232G>T	ENSP00000410815.1:p.Asp1078Tyr
ENST00000467360.1:n.852G>T
ENST00000477310.1:c.2779G>T	ENSP00000418996.1:p.Asp927Tyr
ENST00000483004.1:c.348G>T
NM_001710.5:c.1726G>T , LRG_136t1:c.1726G>T	NP_001701.2:p.Asp576Tyr
NM_001710.6:c.1726G>T MANE Select	NP_001701.2:p.Asp576Tyr