Canonical Allele Identifier: CA363413531

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31919356T>C (hg19) ; chr6:g.31951579T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951579T>C , CM000668.2:g.31951579T>C	GRCh38
NC_000006.11:g.31919356T>C , CM000668.1:g.31919356T>C	GRCh37
NC_000006.10:g.32027335T>C	NCBI36
NG_008191.1:g.10636T>C , LRG_136:g.10636T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2548T>C
ENST00000483004.2:c.1898T>C	ENSP00000419887.2:p.Val633Ala
ENST00000698628.1:c.1883T>C	ENSP00000513848.1:p.Val628Ala
ENST00000698629.1:n.2333T>C
ENST00000698630.1:n.2830T>C
ENST00000698631.1:n.2831T>C
ENST00000698632.1:n.3919T>C
ENST00000698633.1:n.3809T>C
ENST00000425368.7:c.2114T>C MANE Select	ENSP00000416561.2:p.Val705Ala
ENST00000425368.6:c.2114T>C	ENSP00000416561.2:p.Val705Ala
ENST00000456570.5:c.3620T>C	ENSP00000410815.1:p.Val1207Ala
ENST00000477310.1:c.3167T>C	ENSP00000418996.1:p.Val1056Ala
ENST00000482312.1:n.529T>C
ENST00000483004.1:c.736T>C
ENST00000498317.1:c.84T>C
NM_001710.5:c.2114T>C , LRG_136t1:c.2114T>C	NP_001701.2:p.Val705Ala
NM_001710.6:c.2114T>C MANE Select	NP_001701.2:p.Val705Ala