Canonical Allele Identifier: CA2317364645
Gene: CFD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.860602C= , CM000681.2:g.860602C= GRCh38
NC_000019.9:g.860602C= , CM000681.1:g.860602C= GRCh37
NC_000019.8:g.811602C= NCBI36
NG_007274.1:g.5938C= , LRG_46:g.5938C=

Transcript Alleles

HGVS Amino-acid change
ENST00000592860.3:c.77-15C= ENSP00000468253.1:n.77-15C=
ENST00000695942.1:c.-62-15C= ENSP00000512275.1:n.-62-15C=
ENST00000695943.1:c.-62-15C= ENSP00000512276.1:n.-62-15C=
ENST00000695944.1:c.-62-15C= ENSP00000512277.1:n.-62-15C=
ENST00000695945.1:c.56-15C= ENSP00000512278.1:n.56-15C=
ENST00000327726.11:c.56-15C= MANE Select ENSP00000332139.4:n.56-15C=
ENST00000327726.10:c.56-15C= ENSP00000332139.4:n.56-15C=
ENST00000592860.2:c.77-15C= ENSP00000468253.1:n.77-15C=
NM_001928.2:c.56-15C= , LRG_46t1:c.56-15C= NP_001919.2:n.56-15C=
NM_001317335.1:c.77-15C= NP_001304264.1:n.77-15C=
NM_001928.3:c.56-15C= NP_001919.2:n.56-15C=
NM_001317335.2:c.77-15C= NP_001304264.1:n.77-15C=
NM_001928.4:c.56-15C= MANE Select NP_001919.2:n.56-15C=