Canonical Allele Identifier: CA2195335235
Community Standard Title: NM_002569.4(FURIN):c.-159-2262C=
Gene: FURIN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90873320C= , CM000677.2:g.90873320C= GRCh38
NC_000015.9:g.91416550C= , CM000677.1:g.91416550C= GRCh37
NC_000015.8:g.89217554C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002569.4:c.-159-2262C= MANE Select NP_002560.1:n.-159-2262C=
ENST00000268171.8:c.-159-2262C= MANE Select ENSP00000268171.2:n.-159-2262C=
NM_001289823.1:c.-160+1715C= NP_001276752.1:n.-160+1715C=
NM_001289823.2:c.-160+1715C= NP_001276752.1:n.-160+1715C=
NM_001289824.1:c.-160+222C= NP_001276753.1:n.-160+222C=
NM_001289824.2:c.-160+222C= NP_001276753.1:n.-160+222C=
NM_001382619.1:c.-160+2170C= NP_001369548.1:n.-160+2170C=
NM_001382620.1:c.-160+1094C= NP_001369549.1:n.-160+1094C=
NM_001382621.1:c.-160+247C= NP_001369550.1:n.-160+247C=
NM_001382622.1:c.-159-2262C= NP_001369551.1:n.-159-2262C=
NM_002569.3:c.-159-2262C= NP_002560.1:n.-159-2262C=
NR_168464.1:n.66+1715C=
ENST00000268171.7:c.-159-2262C= ENSP00000268171.2:n.-159-2262C=
ENST00000559353.5:c.-160+222C= ENSP00000452730.1:n.-160+222C=
ENST00000610579.4:c.-160+1715C= ENSP00000484952.1:n.-160+1715C=
ENST00000618099.4:c.-160+222C= ENSP00000483552.1:n.-160+222C=
ENST00000680053.1:c.-160+1094C= ENSP00000506143.1:n.-160+1094C=