Canonical Allele Identifier: CA402920677

Gene: CFD

Linked Data

• MyVariant Identifiers: chr19:g.860698A>C (hg19) ; chr19:g.860698A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.860698A>C , CM000681.2:g.860698A>C	GRCh38
NC_000019.9:g.860698A>C , CM000681.1:g.860698A>C	GRCh37
NC_000019.8:g.811698A>C	NCBI36
NG_007274.1:g.6034A>C , LRG_46:g.6034A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592860.3:c.158A>C	ENSP00000468253.1:p.Asn53Thr
ENST00000695942.1:c.20A>C	ENSP00000512275.1:p.Asn7Thr
ENST00000695943.1:c.20A>C	ENSP00000512276.1:p.Asn7Thr
ENST00000695944.1:c.20A>C	ENSP00000512277.1:p.Asn7Thr
ENST00000695945.1:c.137A>C	ENSP00000512278.1:p.Asn46Thr
ENST00000327726.11:c.137A>C MANE Select	ENSP00000332139.4:p.Asn46Thr
ENST00000327726.10:c.137A>C	ENSP00000332139.4:p.Asn46Thr
ENST00000592860.2:c.158A>C	ENSP00000468253.1:p.Asn53Thr
NM_001928.2:c.137A>C , LRG_46t1:c.137A>C	NP_001919.2:p.Asn46Thr
NM_001317335.1:c.158A>C	NP_001304264.1:p.Asn53Thr
NM_001928.3:c.137A>C	NP_001919.2:p.Asn46Thr
NM_001317335.2:c.158A>C	NP_001304264.1:p.Asn53Thr
NM_001928.4:c.137A>C MANE Select	NP_001919.2:p.Asn46Thr