Canonical Allele Identifier: CA9026228

Gene: CFD

Linked Data

• ClinVar Variation Id: 1449869
• ClinVar RCV Id: RCV001989852
• dbSNP Id: rs763026937
• ExAC: 19:860699 C / A
• gnomAD v2: 19-860699-C-A
• gnomAD v3: 19-860699-C-A
• gnomAD v4: 19-860699-C-A
• MyVariant Identifiers: chr19:g.860699C>A (hg19) ; chr19:g.860699C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.860699C>A , CM000681.2:g.860699C>A	GRCh38
NC_000019.9:g.860699C>A , CM000681.1:g.860699C>A	GRCh37
NC_000019.8:g.811699C>A	NCBI36
NG_007274.1:g.6035C>A , LRG_46:g.6035C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592860.3:c.159C>A	ENSP00000468253.1:p.Asn53Lys
ENST00000695942.1:c.21C>A	ENSP00000512275.1:p.Asn7Lys
ENST00000695943.1:c.21C>A	ENSP00000512276.1:p.Asn7Lys
ENST00000695944.1:c.21C>A	ENSP00000512277.1:p.Asn7Lys
ENST00000695945.1:c.138C>A	ENSP00000512278.1:p.Asn46Lys
ENST00000327726.11:c.138C>A MANE Select	ENSP00000332139.4:p.Asn46Lys
ENST00000327726.10:c.138C>A	ENSP00000332139.4:p.Asn46Lys
ENST00000592860.2:c.159C>A	ENSP00000468253.1:p.Asn53Lys
NM_001928.2:c.138C>A , LRG_46t1:c.138C>A	NP_001919.2:p.Asn46Lys
NM_001317335.1:c.159C>A	NP_001304264.1:p.Asn53Lys
NM_001928.3:c.138C>A	NP_001919.2:p.Asn46Lys
NM_001317335.2:c.159C>A	NP_001304264.1:p.Asn53Lys
NM_001928.4:c.138C>A MANE Select	NP_001919.2:p.Asn46Lys