Canonical Allele Identifier: CA363409492

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918550G>C (hg19) ; chr6:g.31950773G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950773G>C , CM000668.2:g.31950773G>C	GRCh38
NC_000006.11:g.31918550G>C , CM000668.1:g.31918550G>C	GRCh37
NC_000006.10:g.32026529G>C	NCBI36
NG_008191.1:g.9830G>C , LRG_136:g.9830G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2171G>C
ENST00000483004.2:c.1562+1G>C	ENSP00000419887.2:n.1562+1G>C
ENST00000698628.1:c.1625-371G>C	ENSP00000513848.1:n.1625-371G>C
ENST00000698629.1:n.1956G>C
ENST00000698630.1:n.2494+1G>C
ENST00000698631.1:n.2495+1G>C
ENST00000698632.1:n.3290G>C
ENST00000698633.1:n.3180G>C
ENST00000698636.1:n.2001G>C
ENST00000425368.7:c.1778+1G>C MANE Select	ENSP00000416561.2:n.1778+1G>C
ENST00000425368.6:c.1778+1G>C	ENSP00000416561.2:n.1778+1G>C
ENST00000456570.5:c.3284+1G>C	ENSP00000410815.1:n.3284+1G>C
ENST00000467360.1:n.904+1G>C
ENST00000477310.1:c.2831+1G>C	ENSP00000418996.1:n.2831+1G>C
ENST00000483004.1:c.400+1G>C
NM_001710.5:c.1778+1G>C , LRG_136t1:c.1778+1G>C	NP_001701.2:n.1778+1G>C
NM_001710.6:c.1778+1G>C MANE Select	NP_001701.2:n.1778+1G>C