Canonical Allele Identifier: CA3728435

Gene: CFB

Linked Data

• dbSNP Id: rs781424814
• ExAC: 6:31918493 C / T
• gnomAD v2: 6-31918493-C-T
• MyVariant Identifiers: chr6:g.31918493C>T (hg19) ; chr6:g.31950716C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950716C>T , CM000668.2:g.31950716C>T	GRCh38
NC_000006.11:g.31918493C>T , CM000668.1:g.31918493C>T	GRCh37
NC_000006.10:g.32026472C>T	NCBI36
NG_008191.1:g.9773C>T , LRG_136:g.9773C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2114C>T
ENST00000483004.2:c.1506C>T	ENSP00000419887.2:p.Asp502=
ENST00000698628.1:c.1624+313C>T	ENSP00000513848.1:n.1624+313C>T
ENST00000698629.1:n.1899C>T
ENST00000698630.1:n.2438C>T
ENST00000698631.1:n.2439C>T
ENST00000698632.1:n.3233C>T
ENST00000698633.1:n.3123C>T
ENST00000698636.1:n.1944C>T
ENST00000425368.7:c.1722C>T MANE Select	ENSP00000416561.2:p.Asp574=
ENST00000425368.6:c.1722C>T	ENSP00000416561.2:p.Asp574=
ENST00000456570.5:c.3228C>T	ENSP00000410815.1:p.Asp1076=
ENST00000467360.1:n.848C>T
ENST00000477310.1:c.2775C>T	ENSP00000418996.1:p.Asp925=
ENST00000483004.1:c.344C>T
NM_001710.5:c.1722C>T , LRG_136t1:c.1722C>T	NP_001701.2:p.Asp574=
NM_001710.6:c.1722C>T MANE Select	NP_001701.2:p.Asp574=