Canonical Allele Identifier: CA9026218

Gene: CFD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.860621G>A , CM000681.2:g.860621G>A	GRCh38
NC_000019.9:g.860621G>A , CM000681.1:g.860621G>A	GRCh37
NC_000019.8:g.811621G>A	NCBI36
NG_007274.1:g.5957G>A , LRG_46:g.5957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592860.3:c.81G>A	ENSP00000468253.1:p.Ala27=
ENST00000695942.1:c.-58G>A	ENSP00000512275.1:n.-58G>A
ENST00000695943.1:c.-58G>A	ENSP00000512276.1:n.-58G>A
ENST00000695944.1:c.-58G>A	ENSP00000512277.1:n.-58G>A
ENST00000695945.1:c.60G>A	ENSP00000512278.1:p.Ala20=
ENST00000327726.11:c.60G>A MANE Select	ENSP00000332139.4:p.Ala20=
ENST00000327726.10:c.60G>A	ENSP00000332139.4:p.Ala20=
ENST00000592860.2:c.81G>A	ENSP00000468253.1:p.Ala27=
NM_001928.2:c.60G>A , LRG_46t1:c.60G>A	NP_001919.2:p.Ala20=
NM_001317335.1:c.81G>A	NP_001304264.1:p.Ala27=
NM_001928.3:c.60G>A	NP_001919.2:p.Ala20=
NM_001317335.2:c.81G>A	NP_001304264.1:p.Ala27=
NM_001928.4:c.60G>A MANE Select	NP_001919.2:p.Ala20=