Canonical Allele Identifier: CA363408401

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918177G>C (hg19) ; chr6:g.31950400G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950400G>C , CM000668.2:g.31950400G>C	GRCh38
NC_000006.11:g.31918177G>C , CM000668.1:g.31918177G>C	GRCh37
NC_000006.10:g.32026156G>C	NCBI36
NG_008191.1:g.9457G>C , LRG_136:g.9457G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.1798G>C
ENST00000483004.2:c.1409-219G>C	ENSP00000419887.2:n.1409-219G>C
ENST00000698628.1:c.1621G>C	ENSP00000513848.1:p.Val541Leu
ENST00000698629.1:n.1798G>C
ENST00000698630.1:n.2337G>C
ENST00000698631.1:n.2338G>C
ENST00000698632.1:n.2917G>C
ENST00000698633.1:n.2807G>C
ENST00000698636.1:n.1843G>C
ENST00000425368.7:c.1621G>C MANE Select	ENSP00000416561.2:p.Val541Leu
ENST00000425368.6:c.1621G>C	ENSP00000416561.2:p.Val541Leu
ENST00000452035.6:n.1621G>C
ENST00000456570.5:c.3127G>C	ENSP00000410815.1:p.Val1043Leu
ENST00000467360.1:n.532G>C
ENST00000477310.1:c.2674G>C	ENSP00000418996.1:p.Val892Leu
ENST00000483004.1:c.247-219G>C
NM_001710.5:c.1621G>C , LRG_136t1:c.1621G>C	NP_001701.2:p.Val541Leu
NM_001710.6:c.1621G>C MANE Select	NP_001701.2:p.Val541Leu