Canonical Allele Identifier: CA303955743

Gene: CFD

Linked Data

• ClinVar Variation Id: 1484762
• ClinVar RCV Id: RCV002030239
• dbSNP Id: rs988200001
• gnomAD v2: 19-863123-G-A
• gnomAD v4: 19-863123-G-A
• MyVariant Identifiers: chr19:g.863123G>A (hg19) ; chr19:g.863123G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.863123G>A , CM000681.2:g.863123G>A	GRCh38
NC_000019.9:g.863123G>A , CM000681.1:g.863123G>A	GRCh37
NC_000019.8:g.814123G>A	NCBI36
NG_007274.1:g.8459G>A , LRG_46:g.8459G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000592860.3:c.668G>A	ENSP00000468253.1:p.Gly223Asp
ENST00000695942.1:c.530G>A	ENSP00000512275.1:p.Gly177Asp
ENST00000695943.1:c.530G>A	ENSP00000512276.1:p.Gly177Asp
ENST00000695944.1:c.530G>A	ENSP00000512277.1:p.Gly177Asp
ENST00000695945.1:c.596G>A	ENSP00000512278.1:p.Gly199Asp
ENST00000695946.1:c.258+1167G>A	ENSP00000512279.1:n.258+1167G>A
ENST00000327726.11:c.647G>A MANE Select	ENSP00000332139.4:p.Gly216Asp
ENST00000327726.10:c.647G>A	ENSP00000332139.4:p.Gly216Asp
ENST00000592860.2:c.668G>A	ENSP00000468253.1:p.Gly223Asp
NM_001928.2:c.647G>A , LRG_46t1:c.647G>A	NP_001919.2:p.Gly216Asp
NM_001317335.1:c.668G>A	NP_001304264.1:p.Gly223Asp
NM_001928.3:c.647G>A	NP_001919.2:p.Gly216Asp
NM_001317335.2:c.668G>A	NP_001304264.1:p.Gly223Asp
NM_001928.4:c.647G>A MANE Select	NP_001919.2:p.Gly216Asp