Canonical Allele Identifier: CA274742467

Gene: FURIN

Linked Data

• dbSNP Id: rs945209586
• gnomAD v3: 15-90881996-A-C
• gnomAD v4: 15-90881996-A-C
• MyVariant Identifiers: chr15:g.91425226A>C (hg19) ; chr15:g.90881996A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90881996A>C , CM000677.2:g.90881996A>C	GRCh38
NC_000015.9:g.91425226A>C , CM000677.1:g.91425226A>C	GRCh37
NC_000015.8:g.89226230A>C	NCBI36
NG_029671.1:g.2539A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268171.8:c.*118A>C MANE Select	ENSP00000268171.2:n.*118A>C
ENST00000680053.1:c.*118A>C	ENSP00000506143.1:n.*118A>C
ENST00000680086.1:n.323+259A>C
ENST00000680687.1:c.*1727A>C	ENSP00000505177.1:n.*1727A>C
ENST00000681804.1:c.*1863A>C	ENSP00000505828.1:n.*1863A>C
ENST00000681865.1:c.*118A>C	ENSP00000505303.1:n.*118A>C
ENST00000268171.7:c.*118A>C	ENSP00000268171.2:n.*118A>C
ENST00000610579.4:c.*118A>C	ENSP00000484952.1:n.*118A>C
ENST00000618099.4:c.*118A>C	ENSP00000483552.1:n.*118A>C
NM_001289823.1:c.*118A>C	NP_001276752.1:n.*118A>C
NM_001289824.1:c.*118A>C	NP_001276753.1:n.*118A>C
NM_002569.3:c.*118A>C	NP_002560.1:n.*118A>C
NM_002569.4:c.*118A>C MANE Select	NP_002560.1:n.*118A>C
NM_001289823.2:c.*118A>C	NP_001276752.1:n.*118A>C
NM_001289824.2:c.*118A>C	NP_001276753.1:n.*118A>C
NM_001382619.1:c.*118A>C	NP_001369548.1:n.*118A>C
NM_001382620.1:c.*118A>C	NP_001369549.1:n.*118A>C
NM_001382621.1:c.*118A>C	NP_001369550.1:n.*118A>C
NM_001382622.1:c.*534A>C	NP_001369551.1:n.*534A>C
NR_168464.1:n.2726A>C