Canonical Allele Identifier: CA2317364704

Gene: CFD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.860699C= , CM000681.2:g.860699C=	GRCh38
NC_000019.9:g.860699C= , CM000681.1:g.860699C=	GRCh37
NC_000019.8:g.811699C=	NCBI36
NG_007274.1:g.6035C= , LRG_46:g.6035C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000592860.3:c.159C=	ENSP00000468253.1:p.Asn53=
ENST00000695942.1:c.21C=	ENSP00000512275.1:p.Asn7=
ENST00000695943.1:c.21C=	ENSP00000512276.1:p.Asn7=
ENST00000695944.1:c.21C=	ENSP00000512277.1:p.Asn7=
ENST00000695945.1:c.138C=	ENSP00000512278.1:p.Asn46=
ENST00000327726.11:c.138C= MANE Select	ENSP00000332139.4:p.Asn46=
ENST00000327726.10:c.138C=	ENSP00000332139.4:p.Asn46=
ENST00000592860.2:c.159C=	ENSP00000468253.1:p.Asn53=
NM_001928.2:c.138C= , LRG_46t1:c.138C=	NP_001919.2:p.Asn46=
NM_001317335.1:c.159C=	NP_001304264.1:p.Asn53=
NM_001928.3:c.138C=	NP_001919.2:p.Asn46=
NM_001317335.2:c.159C=	NP_001304264.1:p.Asn53=
NM_001928.4:c.138C= MANE Select	NP_001919.2:p.Asn46=