Canonical Allele Identifier: CA9026268

Gene: CFD

Linked Data

• ClinVar Variation Id: 402532
• ClinVar RCV Id: RCV000454490 ; RCV001512755
• dbSNP Id: rs1629038
• ExAC: 19:860852 G / C
• gnomAD v2: 19-860852-G-C
• gnomAD v3: 19-860852-G-C
• gnomAD v4: 19-860852-G-C
• MyVariant Identifiers: chr19:g.860852G>C (hg19) ; chr19:g.860852G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.860852G>C , CM000681.2:g.860852G>C	GRCh38
NC_000019.9:g.860852G>C , CM000681.1:g.860852G>C	GRCh37
NC_000019.8:g.811852G>C	NCBI36
NG_007274.1:g.6188G>C , LRG_46:g.6188G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592860.3:c.234-9G>C	ENSP00000468253.1:n.234-9G>C
ENST00000695942.1:c.96-9G>C	ENSP00000512275.1:n.96-9G>C
ENST00000695943.1:c.96-9G>C	ENSP00000512276.1:n.96-9G>C
ENST00000695944.1:c.96-9G>C	ENSP00000512277.1:n.96-9G>C
ENST00000695945.1:c.213-9G>C	ENSP00000512278.1:n.213-9G>C
ENST00000327726.11:c.213-9G>C MANE Select	ENSP00000332139.4:n.213-9G>C
ENST00000327726.10:c.213-9G>C	ENSP00000332139.4:n.213-9G>C
ENST00000592860.2:c.234-9G>C	ENSP00000468253.1:n.234-9G>C
NM_001928.2:c.213-9G>C , LRG_46t1:c.213-9G>C	NP_001919.2:n.213-9G>C
NM_001317335.1:c.234-9G>C	NP_001304264.1:n.234-9G>C
NM_001928.3:c.213-9G>C	NP_001919.2:n.213-9G>C
NM_001317335.2:c.234-9G>C	NP_001304264.1:n.234-9G>C
NM_001928.4:c.213-9G>C MANE Select	NP_001919.2:n.213-9G>C