Canonical Allele Identifier: CA126674
Gene: CFD HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.860686C>A
GRCh37 chr19:g.860686C>A
gnomAD v2:
19:860686 C / A
gnomAD v3:
19:860686 C / A
gnomAD v4:
chr19-860686-C-A
Joint Max Group AF 0.00001247 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001202 (NFE)
ClinVar RCV:
RCV000018032
RCV001729351
ClinVar Variation:
16564
dbSNP:
104894667
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.860686C>A , CM000681.2:g.860686C>A GRCh38
NC_000019.9:g.860686C>A , CM000681.1:g.860686C>A GRCh37
NC_000019.8:g.811686C>A NCBI36
NG_007274.1:g.6022C>A , LRG_46:g.6022C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592860.3:c.146C>A ENSP00000468253.1:p.Ser49Ter
ENST00000695942.1:c.8C>A ENSP00000512275.1:p.Ser3Ter
ENST00000695943.1:c.8C>A ENSP00000512276.1:p.Ser3Ter
ENST00000695944.1:c.8C>A ENSP00000512277.1:p.Ser3Ter
ENST00000695945.1:c.125C>A ENSP00000512278.1:p.Ser42Ter
ENST00000327726.11:c.125C>A MANE Select ENSP00000332139.4:p.Ser42Ter
ENST00000327726.10:c.125C>A ENSP00000332139.4:p.Ser42Ter
ENST00000592860.2:c.146C>A ENSP00000468253.1:p.Ser49Ter
NM_001928.2:c.125C>A , LRG_46t1:c.125C>A NP_001919.2:p.Ser42Ter
NM_001317335.1:c.146C>A NP_001304264.1:p.Ser49Ter
NM_001928.3:c.125C>A NP_001919.2:p.Ser42Ter
NM_001317335.2:c.146C>A NP_001304264.1:p.Ser49Ter
NM_001928.4:c.125C>A MANE Select NP_001919.2:p.Ser42Ter
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