Canonical Allele Identifier: CA363387419

Gene: CFB

Linked Data

• gnomAD v4: 6-31946258-C-T
• MyVariant Identifiers: chr6:g.31914035C>T (hg19) ; chr6:g.31946258C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946258C>T , CM000668.2:g.31946258C>T	GRCh38
NC_000006.11:g.31914035C>T , CM000668.1:g.31914035C>T	GRCh37
NC_000006.10:g.32022014C>T	NCBI36
NG_008191.1:g.5315C>T , LRG_136:g.5315C>T
NG_011730.1:g.23770C>T , LRG_26:g.23770C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.214C>T
ENST00000483004.2:c.37C>T	ENSP00000419887.2:p.Pro13Ser
ENST00000497841.6:c.37C>T	ENSP00000513847.1:p.Pro13Ser
ENST00000698628.1:c.37C>T	ENSP00000513848.1:p.Pro13Ser
ENST00000698629.1:n.214C>T
ENST00000698630.1:n.198C>T
ENST00000698631.1:n.193C>T
ENST00000698632.1:n.165C>T
ENST00000698633.1:n.135C>T
ENST00000698636.1:n.259C>T
ENST00000425368.7:c.37C>T MANE Select	ENSP00000416561.2:p.Pro13Ser
ENST00000425368.6:c.37C>T	ENSP00000416561.2:p.Pro13Ser
ENST00000452035.6:n.37C>T
ENST00000456570.5:c.1571-115C>T	ENSP00000410815.1:n.1571-115C>T
ENST00000460718.5:c.37C>T	ENSP00000417793.1:p.Pro13Ser
ENST00000472581.1:n.284C>T
ENST00000475617.5:c.37C>T	ENSP00000420090.1:p.Pro13Ser
ENST00000477310.1:c.1352-749C>T	ENSP00000418996.1:n.1352-749C>T
NM_001710.5:c.37C>T , LRG_136t1:c.37C>T	NP_001701.2:p.Pro13Ser
NM_001710.6:c.37C>T MANE Select	NP_001701.2:p.Pro13Ser