Canonical Allele Identifier: CA402923567

Gene: CFD

Linked Data

• dbSNP Id: rs958262314
• gnomAD v2: 19-863119-G-T
• gnomAD v4: 19-863119-G-T
• MyVariant Identifiers: chr19:g.863119G>T (hg19) ; chr19:g.863119G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.863119G>T , CM000681.2:g.863119G>T	GRCh38
NC_000019.9:g.863119G>T , CM000681.1:g.863119G>T	GRCh37
NC_000019.8:g.814119G>T	NCBI36
NG_007274.1:g.8455G>T , LRG_46:g.8455G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592860.3:c.664G>T	ENSP00000468253.1:p.Gly222Trp
ENST00000695942.1:c.526G>T	ENSP00000512275.1:p.Gly176Trp
ENST00000695943.1:c.526G>T	ENSP00000512276.1:p.Gly176Trp
ENST00000695944.1:c.526G>T	ENSP00000512277.1:p.Gly176Trp
ENST00000695945.1:c.592G>T	ENSP00000512278.1:p.Gly198Trp
ENST00000695946.1:c.258+1163G>T	ENSP00000512279.1:n.258+1163G>T
ENST00000327726.11:c.643G>T MANE Select	ENSP00000332139.4:p.Gly215Trp
ENST00000327726.10:c.643G>T	ENSP00000332139.4:p.Gly215Trp
ENST00000592860.2:c.664G>T	ENSP00000468253.1:p.Gly222Trp
NM_001928.2:c.643G>T , LRG_46t1:c.643G>T	NP_001919.2:p.Gly215Trp
NM_001317335.1:c.664G>T	NP_001304264.1:p.Gly222Trp
NM_001928.3:c.643G>T	NP_001919.2:p.Gly215Trp
NM_001317335.2:c.664G>T	NP_001304264.1:p.Gly222Trp
NM_001928.4:c.643G>T MANE Select	NP_001919.2:p.Gly215Trp