Canonical Allele Identifier: CA363409710

Gene: CFB

Linked Data

• gnomAD v4: 6-31950882-C-T
• MyVariant Identifiers: chr6:g.31918659C>T (hg19) ; chr6:g.31950882C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950882C>T , CM000668.2:g.31950882C>T	GRCh38
NC_000006.11:g.31918659C>T , CM000668.1:g.31918659C>T	GRCh37
NC_000006.10:g.32026638C>T	NCBI36
NG_008191.1:g.9939C>T , LRG_136:g.9939C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2280C>T
ENST00000483004.2:c.1577C>T	ENSP00000419887.2:p.Pro526Leu
ENST00000698628.1:c.1625-262C>T	ENSP00000513848.1:n.1625-262C>T
ENST00000698629.1:n.2065C>T
ENST00000698630.1:n.2509C>T
ENST00000698631.1:n.2510C>T
ENST00000698632.1:n.3399C>T
ENST00000698633.1:n.3289C>T
ENST00000425368.7:c.1793C>T MANE Select	ENSP00000416561.2:p.Pro598Leu
ENST00000425368.6:c.1793C>T	ENSP00000416561.2:p.Pro598Leu
ENST00000456570.5:c.3299C>T	ENSP00000410815.1:p.Pro1100Leu
ENST00000467360.1:n.919C>T
ENST00000477310.1:c.2846C>T	ENSP00000418996.1:p.Pro949Leu
ENST00000482312.1:n.9C>T
ENST00000483004.1:c.415C>T
NM_001710.5:c.1793C>T , LRG_136t1:c.1793C>T	NP_001701.2:p.Pro598Leu
NM_001710.6:c.1793C>T MANE Select	NP_001701.2:p.Pro598Leu