Canonical Allele Identifier: CA363410316

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918721A>T (hg19) ; chr6:g.31950944A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950944A>T , CM000668.2:g.31950944A>T	GRCh38
NC_000006.11:g.31918721A>T , CM000668.1:g.31918721A>T	GRCh37
NC_000006.10:g.32026700A>T	NCBI36
NG_008191.1:g.10001A>T , LRG_136:g.10001A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2342A>T
ENST00000483004.2:c.1639A>T	ENSP00000419887.2:p.Lys547Ter
ENST00000698628.1:c.1625-200A>T	ENSP00000513848.1:n.1625-200A>T
ENST00000698629.1:n.2127A>T
ENST00000698630.1:n.2571A>T
ENST00000698631.1:n.2572A>T
ENST00000698632.1:n.3461A>T
ENST00000698633.1:n.3351A>T
ENST00000425368.7:c.1855A>T MANE Select	ENSP00000416561.2:p.Lys619Ter
ENST00000425368.6:c.1855A>T	ENSP00000416561.2:p.Lys619Ter
ENST00000456570.5:c.3361A>T	ENSP00000410815.1:p.Lys1121Ter
ENST00000467360.1:n.981A>T
ENST00000477310.1:c.2908A>T	ENSP00000418996.1:p.Lys970Ter
ENST00000482312.1:n.71A>T
ENST00000483004.1:c.477A>T
NM_001710.5:c.1855A>T , LRG_136t1:c.1855A>T	NP_001701.2:p.Lys619Ter
NM_001710.6:c.1855A>T MANE Select	NP_001701.2:p.Lys619Ter