Canonical Allele Identifier: CA2317366543
Gene: CFD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.863026G= , CM000681.2:g.863026G= GRCh38
NC_000019.9:g.863026G= , CM000681.1:g.863026G= GRCh37
NC_000019.8:g.814026G= NCBI36
NG_007274.1:g.8362G= , LRG_46:g.8362G=

Transcript Alleles

HGVS Amino-acid change
ENST00000592860.3:c.637-66G= ENSP00000468253.1:n.637-66G=
ENST00000695942.1:c.499-66G= ENSP00000512275.1:n.499-66G=
ENST00000695943.1:c.499-66G= ENSP00000512276.1:n.499-66G=
ENST00000695944.1:c.499-66G= ENSP00000512277.1:n.499-66G=
ENST00000695945.1:c.565-66G= ENSP00000512278.1:n.565-66G=
ENST00000695946.1:c.258+1070G= ENSP00000512279.1:n.258+1070G=
ENST00000327726.11:c.616-66G= MANE Select ENSP00000332139.4:n.616-66G=
ENST00000327726.10:c.616-66G= ENSP00000332139.4:n.616-66G=
ENST00000592860.2:c.637-66G= ENSP00000468253.1:n.637-66G=
NM_001928.2:c.616-66G= , LRG_46t1:c.616-66G= NP_001919.2:n.616-66G=
NM_001317335.1:c.637-66G= NP_001304264.1:n.637-66G=
NM_001928.3:c.616-66G= NP_001919.2:n.616-66G=
NM_001317335.2:c.637-66G= NP_001304264.1:n.637-66G=
NM_001928.4:c.616-66G= MANE Select NP_001919.2:n.616-66G=