Canonical Allele Identifier: CA9026215

Gene: CFD

Linked Data

• ClinVar Variation Id: 1561105
• ClinVar RCV Id: RCV002211582
• dbSNP Id: rs565504637
• ExAC: 19:860604 C / T
• gnomAD v2: 19-860604-C-T
• gnomAD v3: 19-860604-C-T
• gnomAD v4: 19-860604-C-T
• MyVariant Identifiers: chr19:g.860604C>T (hg19) ; chr19:g.860604C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.860604C>T , CM000681.2:g.860604C>T	GRCh38
NC_000019.9:g.860604C>T , CM000681.1:g.860604C>T	GRCh37
NC_000019.8:g.811604C>T	NCBI36
NG_007274.1:g.5940C>T , LRG_46:g.5940C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592860.3:c.77-13C>T	ENSP00000468253.1:n.77-13C>T
ENST00000695942.1:c.-62-13C>T	ENSP00000512275.1:n.-62-13C>T
ENST00000695943.1:c.-62-13C>T	ENSP00000512276.1:n.-62-13C>T
ENST00000695944.1:c.-62-13C>T	ENSP00000512277.1:n.-62-13C>T
ENST00000695945.1:c.56-13C>T	ENSP00000512278.1:n.56-13C>T
ENST00000327726.11:c.56-13C>T MANE Select	ENSP00000332139.4:n.56-13C>T
ENST00000327726.10:c.56-13C>T	ENSP00000332139.4:n.56-13C>T
ENST00000592860.2:c.77-13C>T	ENSP00000468253.1:n.77-13C>T
NM_001928.2:c.56-13C>T , LRG_46t1:c.56-13C>T	NP_001919.2:n.56-13C>T
NM_001317335.1:c.77-13C>T	NP_001304264.1:n.77-13C>T
NM_001928.3:c.56-13C>T	NP_001919.2:n.56-13C>T
NM_001317335.2:c.77-13C>T	NP_001304264.1:n.77-13C>T
NM_001928.4:c.56-13C>T MANE Select	NP_001919.2:n.56-13C>T