Canonical Allele Identifier: CA449812169

Gene: CFB

Linked Data

• gnomAD v4: 6-31950734-C-T
• MyVariant Identifiers: chr6:g.31918511C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950734C>T , CM000668.2:g.31950734C>T	GRCh38
NC_000006.11:g.31918511C>T , CM000668.1:g.31918511C>T	GRCh37
NC_000006.10:g.32026490C>T	NCBI36
NG_008191.1:g.9791C>T , LRG_136:g.9791C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2132C>T
ENST00000483004.2:c.1524C>T	ENSP00000419887.2:p.Ile508=
ENST00000698628.1:c.1624+331C>T	ENSP00000513848.1:n.1624+331C>T
ENST00000698629.1:n.1917C>T
ENST00000698630.1:n.2456C>T
ENST00000698631.1:n.2457C>T
ENST00000698632.1:n.3251C>T
ENST00000698633.1:n.3141C>T
ENST00000698636.1:n.1962C>T
ENST00000425368.7:c.1740C>T MANE Select	ENSP00000416561.2:p.Ile580=
ENST00000425368.6:c.1740C>T	ENSP00000416561.2:p.Ile580=
ENST00000456570.5:c.3246C>T	ENSP00000410815.1:p.Ile1082=
ENST00000467360.1:n.866C>T
ENST00000477310.1:c.2793C>T	ENSP00000418996.1:p.Ile931=
ENST00000483004.1:c.362C>T
NM_001710.5:c.1740C>T , LRG_136t1:c.1740C>T	NP_001701.2:p.Ile580=
NM_001710.6:c.1740C>T MANE Select	NP_001701.2:p.Ile580=