Canonical Allele Identifier: CA402920654
Gene: CFD HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.860686C>T
GRCh37 chr19:g.860686C>T
Revel Score:
ENST00000327726 (MANE Select) 0.275
gnomAD v2:
19:860686 C / T
gnomAD v4:
chr19-860686-C-T
Joint Max Group AF 6.9e-7 (NFE)
Exomes Max Group AF 7.4e-7 (NFE)
ClinVar Allele:
624673
ClinVar RCV:
RCV000788228
ClinVar Variation:
636410
dbSNP:
104894667
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000592860.3:c.146C>T ENSP00000468253.1:p.Ser49Leu
ENST00000695942.1:c.8C>T ENSP00000512275.1:p.Ser3Leu
ENST00000695943.1:c.8C>T ENSP00000512276.1:p.Ser3Leu
ENST00000695944.1:c.8C>T ENSP00000512277.1:p.Ser3Leu
ENST00000695945.1:c.125C>T ENSP00000512278.1:p.Ser42Leu
ENST00000327726.11:c.125C>T MANE Select ENSP00000332139.4:p.Ser42Leu
ENST00000327726.10:c.125C>T ENSP00000332139.4:p.Ser42Leu
ENST00000592860.2:c.146C>T ENSP00000468253.1:p.Ser49Leu
NM_001928.2:c.125C>T , LRG_46t1:c.125C>T NP_001919.2:p.Ser42Leu
NM_001317335.1:c.146C>T NP_001304264.1:p.Ser49Leu
NM_001928.3:c.125C>T NP_001919.2:p.Ser42Leu
NM_001317335.2:c.146C>T NP_001304264.1:p.Ser49Leu
NM_001928.4:c.125C>T MANE Select NP_001919.2:p.Ser42Leu
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