Canonical Allele Identifier: CA402920456

Gene: CFD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.859743C>G , CM000681.2:g.859743C>G	GRCh38
NC_000019.9:g.859743C>G , CM000681.1:g.859743C>G	GRCh37
NC_000019.8:g.810743C>G	NCBI36
NG_007274.1:g.5079C>G , LRG_46:g.5079C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001928.4:c.54C>G MANE Select	NP_001919.2:p.Cys18Trp
ENST00000327726.11:c.54C>G MANE Select	ENSP00000332139.4:p.Cys18Trp
NM_001317335.1:c.54C>G	NP_001304264.1:p.Cys18Trp
NM_001317335.2:c.54C>G	NP_001304264.1:p.Cys18Trp
NM_001928.2:c.54C>G , LRG_46t1:c.54C>G	NP_001919.2:p.Cys18Trp
NM_001928.3:c.54C>G	NP_001919.2:p.Cys18Trp
ENST00000327726.10:c.54C>G	ENSP00000332139.4:p.Cys18Trp
ENST00000592860.2:c.54C>G	ENSP00000468253.1:p.Cys18Trp
ENST00000592860.3:c.54C>G	ENSP00000468253.1:p.Cys18Trp
ENST00000695942.1:c.-63+211C>G	ENSP00000512275.1:n.-63+211C>G
ENST00000695943.1:c.-63+227C>G	ENSP00000512276.1:n.-63+227C>G
ENST00000695944.1:c.-155C>G	ENSP00000512277.1:n.-155C>G
ENST00000695945.1:c.54C>G	ENSP00000512278.1:p.Cys18Trp