Canonical Allele Identifier: CA402920492

Gene: CFD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.859760C>A , CM000681.2:g.859760C>A	GRCh38
NC_000019.9:g.859760C>A , CM000681.1:g.859760C>A	GRCh37
NC_000019.8:g.810760C>A	NCBI36
NG_007274.1:g.5096C>A , LRG_46:g.5096C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001928.4:c.55+16C>A MANE Select	NP_001919.2:n.55+16C>A
ENST00000327726.11:c.55+16C>A MANE Select	ENSP00000332139.4:n.55+16C>A
NM_001317335.1:c.71C>A	NP_001304264.1:p.Ala24Asp
NM_001317335.2:c.71C>A	NP_001304264.1:p.Ala24Asp
NM_001928.2:c.55+16C>A , LRG_46t1:c.55+16C>A	NP_001919.2:n.55+16C>A
NM_001928.3:c.55+16C>A	NP_001919.2:n.55+16C>A
ENST00000327726.10:c.55+16C>A	ENSP00000332139.4:n.55+16C>A
ENST00000592860.2:c.71C>A	ENSP00000468253.1:p.Ala24Asp
ENST00000592860.3:c.71C>A	ENSP00000468253.1:p.Ala24Asp
ENST00000695942.1:c.-63+228C>A	ENSP00000512275.1:n.-63+228C>A
ENST00000695943.1:c.-63+244C>A	ENSP00000512276.1:n.-63+244C>A
ENST00000695944.1:c.-138C>A	ENSP00000512277.1:n.-138C>A
ENST00000695945.1:c.55+16C>A	ENSP00000512278.1:n.55+16C>A