Canonical Allele Identifier: CA3728503
Community Standard Title: NM_001710.6(CFB):c.1956+10G>A
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31951254G>A , CM000668.2:g.31951254G>A GRCh38
NC_000006.11:g.31919031G>A , CM000668.1:g.31919031G>A GRCh37
NC_000006.10:g.32027010G>A NCBI36
NG_008191.1:g.10311G>A , LRG_136:g.10311G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001710.6:c.1956+10G>A MANE Select NP_001701.2:n.1956+10G>A
ENST00000425368.7:c.1956+10G>A MANE Select ENSP00000416561.2:n.1956+10G>A
NM_001710.5:c.1956+10G>A , LRG_136t1:c.1956+10G>A NP_001701.2:n.1956+10G>A
ENST00000425368.6:c.1956+10G>A ENSP00000416561.2:n.1956+10G>A
ENST00000452035.7:n.2390+10G>A
ENST00000456570.5:c.3462+10G>A ENSP00000410815.1:n.3462+10G>A
ENST00000477310.1:c.3009+10G>A ENSP00000418996.1:n.3009+10G>A
ENST00000482312.1:n.371+10G>A
ENST00000483004.1:c.578+10G>A
ENST00000483004.2:c.1740+10G>A ENSP00000419887.2:n.1740+10G>A
ENST00000698628.1:c.1725+10G>A ENSP00000513848.1:n.1725+10G>A
ENST00000698629.1:n.2175+10G>A
ENST00000698630.1:n.2672+10G>A
ENST00000698631.1:n.2673+10G>A
ENST00000698632.1:n.3761+10G>A
ENST00000698633.1:n.3651+10G>A