Canonical Allele Identifier: CA363409964

Gene: CFB

Linked Data

• gnomAD v4: 6-31950913-G-T
• MyVariant Identifiers: chr6:g.31918690G>T (hg19) ; chr6:g.31950913G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950913G>T , CM000668.2:g.31950913G>T	GRCh38
NC_000006.11:g.31918690G>T , CM000668.1:g.31918690G>T	GRCh37
NC_000006.10:g.32026669G>T	NCBI36
NG_008191.1:g.9970G>T , LRG_136:g.9970G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2311G>T
ENST00000483004.2:c.1608G>T	ENSP00000419887.2:p.Arg536Ser
ENST00000698628.1:c.1625-231G>T	ENSP00000513848.1:n.1625-231G>T
ENST00000698629.1:n.2096G>T
ENST00000698630.1:n.2540G>T
ENST00000698631.1:n.2541G>T
ENST00000698632.1:n.3430G>T
ENST00000698633.1:n.3320G>T
ENST00000425368.7:c.1824G>T MANE Select	ENSP00000416561.2:p.Arg608Ser
ENST00000425368.6:c.1824G>T	ENSP00000416561.2:p.Arg608Ser
ENST00000456570.5:c.3330G>T	ENSP00000410815.1:p.Arg1110Ser
ENST00000467360.1:n.950G>T
ENST00000477310.1:c.2877G>T	ENSP00000418996.1:p.Arg959Ser
ENST00000482312.1:n.40G>T
ENST00000483004.1:c.446G>T
NM_001710.5:c.1824G>T , LRG_136t1:c.1824G>T	NP_001701.2:p.Arg608Ser
NM_001710.6:c.1824G>T MANE Select	NP_001701.2:p.Arg608Ser