Canonical Allele Identifier: CA2587806142

Gene: CFD

Linked Data

• gnomAD v4: 19-860594-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.860594C>A , CM000681.2:g.860594C>A	GRCh38
NC_000019.9:g.860594C>A , CM000681.1:g.860594C>A	GRCh37
NC_000019.8:g.811594C>A	NCBI36
NG_007274.1:g.5930C>A , LRG_46:g.5930C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000592860.3:c.77-23C>A	ENSP00000468253.1:n.77-23C>A
ENST00000695942.1:c.-62-23C>A	ENSP00000512275.1:n.-62-23C>A
ENST00000695943.1:c.-62-23C>A	ENSP00000512276.1:n.-62-23C>A
ENST00000695944.1:c.-62-23C>A	ENSP00000512277.1:n.-62-23C>A
ENST00000695945.1:c.56-23C>A	ENSP00000512278.1:n.56-23C>A
ENST00000327726.11:c.56-23C>A MANE Select	ENSP00000332139.4:n.56-23C>A
ENST00000327726.10:c.56-23C>A	ENSP00000332139.4:n.56-23C>A
ENST00000592860.2:c.77-23C>A	ENSP00000468253.1:n.77-23C>A
NM_001928.2:c.56-23C>A , LRG_46t1:c.56-23C>A	NP_001919.2:n.56-23C>A
NM_001317335.1:c.77-23C>A	NP_001304264.1:n.77-23C>A
NM_001928.3:c.56-23C>A	NP_001919.2:n.56-23C>A
NM_001317335.2:c.77-23C>A	NP_001304264.1:n.77-23C>A
NM_001928.4:c.56-23C>A MANE Select	NP_001919.2:n.56-23C>A