Canonical Allele Identifier: CA2317364707

Gene: CFD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.860703G= , CM000681.2:g.860703G=	GRCh38
NC_000019.9:g.860703G= , CM000681.1:g.860703G=	GRCh37
NC_000019.8:g.811703G=	NCBI36
NG_007274.1:g.6039G= , LRG_46:g.6039G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592860.3:c.163G=	ENSP00000468253.1:p.Ala55=
ENST00000695942.1:c.25G=	ENSP00000512275.1:p.Ala9=
ENST00000695943.1:c.25G=	ENSP00000512276.1:p.Ala9=
ENST00000695944.1:c.25G=	ENSP00000512277.1:p.Ala9=
ENST00000695945.1:c.142G=	ENSP00000512278.1:p.Ala48=
ENST00000327726.11:c.142G= MANE Select	ENSP00000332139.4:p.Ala48=
ENST00000327726.10:c.142G=	ENSP00000332139.4:p.Ala48=
ENST00000592860.2:c.163G=	ENSP00000468253.1:p.Ala55=
NM_001928.2:c.142G= , LRG_46t1:c.142G=	NP_001919.2:p.Ala48=
NM_001317335.1:c.163G=	NP_001304264.1:p.Ala55=
NM_001928.3:c.142G=	NP_001919.2:p.Ala48=
NM_001317335.2:c.163G=	NP_001304264.1:p.Ala55=
NM_001928.4:c.142G= MANE Select	NP_001919.2:p.Ala48=