Canonical Allele Identifier: CA504881829

Gene: CFD

Linked Data

• gnomAD v4: 19-860705-G-A
• MyVariant Identifiers: chr19:g.860705G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.860705G>A , CM000681.2:g.860705G>A	GRCh38
NC_000019.9:g.860705G>A , CM000681.1:g.860705G>A	GRCh37
NC_000019.8:g.811705G>A	NCBI36
NG_007274.1:g.6041G>A , LRG_46:g.6041G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592860.3:c.165G>A	ENSP00000468253.1:p.Ala55=
ENST00000695942.1:c.27G>A	ENSP00000512275.1:p.Ala9=
ENST00000695943.1:c.27G>A	ENSP00000512276.1:p.Ala9=
ENST00000695944.1:c.27G>A	ENSP00000512277.1:p.Ala9=
ENST00000695945.1:c.144G>A	ENSP00000512278.1:p.Ala48=
ENST00000327726.11:c.144G>A MANE Select	ENSP00000332139.4:p.Ala48=
ENST00000327726.10:c.144G>A	ENSP00000332139.4:p.Ala48=
ENST00000592860.2:c.165G>A	ENSP00000468253.1:p.Ala55=
NM_001928.2:c.144G>A , LRG_46t1:c.144G>A	NP_001919.2:p.Ala48=
NM_001317335.1:c.165G>A	NP_001304264.1:p.Ala55=
NM_001928.3:c.144G>A	NP_001919.2:p.Ala48=
NM_001317335.2:c.165G>A	NP_001304264.1:p.Ala55=
NM_001928.4:c.144G>A MANE Select	NP_001919.2:p.Ala48=