Canonical Allele Identifier: CA2317364646

Gene: CFD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.860604C= , CM000681.2:g.860604C=	GRCh38
NC_000019.9:g.860604C= , CM000681.1:g.860604C=	GRCh37
NC_000019.8:g.811604C=	NCBI36
NG_007274.1:g.5940C= , LRG_46:g.5940C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000592860.3:c.77-13C=	ENSP00000468253.1:n.77-13C=
ENST00000695942.1:c.-62-13C=	ENSP00000512275.1:n.-62-13C=
ENST00000695943.1:c.-62-13C=	ENSP00000512276.1:n.-62-13C=
ENST00000695944.1:c.-62-13C=	ENSP00000512277.1:n.-62-13C=
ENST00000695945.1:c.56-13C=	ENSP00000512278.1:n.56-13C=
ENST00000327726.11:c.56-13C= MANE Select	ENSP00000332139.4:n.56-13C=
ENST00000327726.10:c.56-13C=	ENSP00000332139.4:n.56-13C=
ENST00000592860.2:c.77-13C=	ENSP00000468253.1:n.77-13C=
NM_001928.2:c.56-13C= , LRG_46t1:c.56-13C=	NP_001919.2:n.56-13C=
NM_001317335.1:c.77-13C=	NP_001304264.1:n.77-13C=
NM_001928.3:c.56-13C=	NP_001919.2:n.56-13C=
NM_001317335.2:c.77-13C=	NP_001304264.1:n.77-13C=
NM_001928.4:c.56-13C= MANE Select	NP_001919.2:n.56-13C=