Canonical Allele Identifier: CA363409497

Gene: CFB

Linked Data

• dbSNP Id: rs112949905
• MyVariant Identifiers: chr6:g.31918551T>A (hg19) ; chr6:g.31950774T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950774T>A , CM000668.2:g.31950774T>A	GRCh38
NC_000006.11:g.31918551T>A , CM000668.1:g.31918551T>A	GRCh37
NC_000006.10:g.32026530T>A	NCBI36
NG_008191.1:g.9831T>A , LRG_136:g.9831T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2172T>A
ENST00000483004.2:c.1562+2T>A	ENSP00000419887.2:n.1562+2T>A
ENST00000698628.1:c.1625-370T>A	ENSP00000513848.1:n.1625-370T>A
ENST00000698629.1:n.1957T>A
ENST00000698630.1:n.2494+2T>A
ENST00000698631.1:n.2495+2T>A
ENST00000698632.1:n.3291T>A
ENST00000698633.1:n.3181T>A
ENST00000698636.1:n.2002T>A
ENST00000425368.7:c.1778+2T>A MANE Select	ENSP00000416561.2:n.1778+2T>A
ENST00000425368.6:c.1778+2T>A	ENSP00000416561.2:n.1778+2T>A
ENST00000456570.5:c.3284+2T>A	ENSP00000410815.1:n.3284+2T>A
ENST00000467360.1:n.904+2T>A
ENST00000477310.1:c.2831+2T>A	ENSP00000418996.1:n.2831+2T>A
ENST00000483004.1:c.400+2T>A
NM_001710.5:c.1778+2T>A , LRG_136t1:c.1778+2T>A	NP_001701.2:n.1778+2T>A
NM_001710.6:c.1778+2T>A MANE Select	NP_001701.2:n.1778+2T>A