Canonical Allele Identifier: CA363409013

Gene: CFB

Linked Data

• dbSNP Id: rs1771707544
• gnomAD v4: 6-31950702-C-T
• MyVariant Identifiers: chr6:g.31918479C>T (hg19) ; chr6:g.31950702C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950702C>T , CM000668.2:g.31950702C>T	GRCh38
NC_000006.11:g.31918479C>T , CM000668.1:g.31918479C>T	GRCh37
NC_000006.10:g.32026458C>T	NCBI36
NG_008191.1:g.9759C>T , LRG_136:g.9759C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2100C>T
ENST00000483004.2:c.1492C>T	ENSP00000419887.2:p.Pro498Ser
ENST00000698628.1:c.1624+299C>T	ENSP00000513848.1:n.1624+299C>T
ENST00000698629.1:n.1885C>T
ENST00000698630.1:n.2424C>T
ENST00000698631.1:n.2425C>T
ENST00000698632.1:n.3219C>T
ENST00000698633.1:n.3109C>T
ENST00000698636.1:n.1930C>T
ENST00000425368.7:c.1708C>T MANE Select	ENSP00000416561.2:p.Pro570Ser
ENST00000425368.6:c.1708C>T	ENSP00000416561.2:p.Pro570Ser
ENST00000456570.5:c.3214C>T	ENSP00000410815.1:p.Pro1072Ser
ENST00000467360.1:n.834C>T
ENST00000477310.1:c.2761C>T	ENSP00000418996.1:p.Pro921Ser
ENST00000483004.1:c.330C>T
NM_001710.5:c.1708C>T , LRG_136t1:c.1708C>T	NP_001701.2:p.Pro570Ser
NM_001710.6:c.1708C>T MANE Select	NP_001701.2:p.Pro570Ser