Canonical Allele Identifier: CA3728387

Gene: CFB

Linked Data

• dbSNP Id: rs750052520
• ExAC: 6:31918235 C / T
• gnomAD v2: 6-31918235-C-T
• gnomAD v4: 6-31950458-C-T
• MyVariant Identifiers: chr6:g.31918235C>T (hg19) ; chr6:g.31950458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950458C>T , CM000668.2:g.31950458C>T	GRCh38
NC_000006.11:g.31918235C>T , CM000668.1:g.31918235C>T	GRCh37
NC_000006.10:g.32026214C>T	NCBI36
NG_008191.1:g.9515C>T , LRG_136:g.9515C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1856C>T
ENST00000483004.2:c.1409-161C>T	ENSP00000419887.2:n.1409-161C>T
ENST00000698628.1:c.1624+55C>T	ENSP00000513848.1:n.1624+55C>T
ENST00000698629.1:n.1801+55C>T
ENST00000698630.1:n.2340+55C>T
ENST00000698631.1:n.2341+55C>T
ENST00000698632.1:n.2975C>T
ENST00000698633.1:n.2865C>T
ENST00000698636.1:n.1846+55C>T
ENST00000425368.7:c.1624+55C>T MANE Select	ENSP00000416561.2:n.1624+55C>T
ENST00000425368.6:c.1624+55C>T	ENSP00000416561.2:n.1624+55C>T
ENST00000452035.6:n.1679C>T
ENST00000456570.5:c.3130+55C>T	ENSP00000410815.1:n.3130+55C>T
ENST00000467360.1:n.590C>T
ENST00000477310.1:c.2677+55C>T	ENSP00000418996.1:n.2677+55C>T
ENST00000483004.1:c.247-161C>T
NM_001710.5:c.1624+55C>T , LRG_136t1:c.1624+55C>T	NP_001701.2:n.1624+55C>T
NM_001710.6:c.1624+55C>T MANE Select	NP_001701.2:n.1624+55C>T