Canonical Allele Identifier: CA9026372

Gene: CFD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.861821C>A , CM000681.2:g.861821C>A	GRCh38
NC_000019.9:g.861821C>A , CM000681.1:g.861821C>A	GRCh37
NC_000019.8:g.812821C>A	NCBI36
NG_007274.1:g.7157C>A , LRG_46:g.7157C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001928.4:c.480C>A MANE Select	NP_001919.2:p.Gly160=
ENST00000327726.11:c.480C>A MANE Select	ENSP00000332139.4:p.Gly160=
NM_001317335.1:c.501C>A	NP_001304264.1:p.Gly167=
NM_001317335.2:c.501C>A	NP_001304264.1:p.Gly167=
NM_001928.2:c.480C>A , LRG_46t1:c.480C>A	NP_001919.2:p.Gly160=
NM_001928.3:c.480C>A	NP_001919.2:p.Gly160=
ENST00000327726.10:c.480C>A	ENSP00000332139.4:p.Gly160=
ENST00000592860.2:c.501C>A	ENSP00000468253.1:p.Gly167=
ENST00000592860.3:c.501C>A	ENSP00000468253.1:p.Gly167=
ENST00000695942.1:c.363C>A	ENSP00000512275.1:p.Gly121=
ENST00000695943.1:c.363C>A	ENSP00000512276.1:p.Gly121=
ENST00000695944.1:c.363C>A	ENSP00000512277.1:p.Gly121=
ENST00000695945.1:c.429C>A	ENSP00000512278.1:p.Gly143=
ENST00000695946.1:c.123C>A	ENSP00000512279.1:p.Gly41=