Canonical Allele Identifier: CA1619374607
Gene: CFB HGNC NCBI

Linked Data

dbSNP Id: rs755016493

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31946219G>T , CM000668.2:g.31946219G>T GRCh38
NC_000006.11:g.31913996G>T , CM000668.1:g.31913996G>T GRCh37
NC_000006.10:g.32021975G>T NCBI36
NG_008191.1:g.5276G>T , LRG_136:g.5276G>T
NG_011730.1:g.23731G>T , LRG_26:g.23731G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.175G>T
ENST00000483004.2:c.-3G>T ENSP00000419887.2:n.-3G>T
ENST00000497841.6:c.-3G>T ENSP00000513847.1:n.-3G>T
ENST00000698628.1:c.-3G>T ENSP00000513848.1:n.-3G>T
ENST00000698629.1:n.175G>T
ENST00000698630.1:n.159G>T
ENST00000698631.1:n.154G>T
ENST00000698632.1:n.126G>T
ENST00000698633.1:n.96G>T
ENST00000698636.1:n.220G>T
ENST00000425368.7:c.-3G>T MANE Select ENSP00000416561.2:n.-3G>T
ENST00000425368.6:c.-3G>T ENSP00000416561.2:n.-3G>T
ENST00000456570.5:c.1571-154G>T ENSP00000410815.1:n.1571-154G>T
ENST00000460718.5:c.-3G>T ENSP00000417793.1:n.-3G>T
ENST00000472581.1:n.245G>T
ENST00000475617.5:c.-3G>T ENSP00000420090.1:n.-3G>T
ENST00000477310.1:c.1352-788G>T ENSP00000418996.1:n.1352-788G>T
NM_001710.5:c.-3G>T , LRG_136t1:c.-3G>T NP_001701.2:n.-3G>T
NM_001710.6:c.-3G>T MANE Select NP_001701.2:n.-3G>T