Canonical Allele Identifier: CA14110610

Gene: FURIN

Linked Data

• ClinVar Variation Id: 1265365
• ClinVar RCV Id: RCV001667891
• dbSNP Id: rs17514846
• gnomAD v2: 15-91416550-C-A
• gnomAD v3: 15-90873320-C-A
• gnomAD v4: 15-90873320-C-A
• MyVariant Identifiers: chr15:g.91416550C>A (hg19) ; chr15:g.90873320C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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