Canonical Allele Identifier: CA504881781

Gene: CFD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.860636G>T , CM000681.2:g.860636G>T	GRCh38
NC_000019.9:g.860636G>T , CM000681.1:g.860636G>T	GRCh37
NC_000019.8:g.811636G>T	NCBI36
NG_007274.1:g.5972G>T , LRG_46:g.5972G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592860.3:c.96G>T	ENSP00000468253.1:p.Arg32=
ENST00000695942.1:c.-43G>T	ENSP00000512275.1:n.-43G>T
ENST00000695943.1:c.-43G>T	ENSP00000512276.1:n.-43G>T
ENST00000695944.1:c.-43G>T	ENSP00000512277.1:n.-43G>T
ENST00000695945.1:c.75G>T	ENSP00000512278.1:p.Arg25=
ENST00000327726.11:c.75G>T MANE Select	ENSP00000332139.4:p.Arg25=
ENST00000327726.10:c.75G>T	ENSP00000332139.4:p.Arg25=
ENST00000592860.2:c.96G>T	ENSP00000468253.1:p.Arg32=
NM_001928.2:c.75G>T , LRG_46t1:c.75G>T	NP_001919.2:p.Arg25=
NM_001317335.1:c.96G>T	NP_001304264.1:p.Arg32=
NM_001928.3:c.75G>T	NP_001919.2:p.Arg25=
NM_001317335.2:c.96G>T	NP_001304264.1:p.Arg32=
NM_001928.4:c.75G>T MANE Select	NP_001919.2:p.Arg25=