Canonical Allele Identifier: CA274736465

Gene: FURIN

Linked Data

• dbSNP Id: rs2071410
• gnomAD v4: 15-90877710-C-T
• MyVariant Identifiers: chr15:g.91420940C>T (hg19) ; chr15:g.90877710C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90877710C>T , CM000677.2:g.90877710C>T	GRCh38
NC_000015.9:g.91420940C>T , CM000677.1:g.91420940C>T	GRCh37
NC_000015.8:g.89221944C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000268171.8:c.667+95C>T MANE Select	ENSP00000268171.2:n.667+95C>T
ENST00000680053.1:c.667+95C>T	ENSP00000506143.1:n.667+95C>T
ENST00000680687.1:c.579-422C>T	ENSP00000505177.1:n.579-422C>T
ENST00000681804.1:c.*27+95C>T	ENSP00000505828.1:n.*27+95C>T
ENST00000681865.1:c.661+95C>T	ENSP00000505303.1:n.661+95C>T
ENST00000268171.7:c.667+95C>T	ENSP00000268171.2:n.667+95C>T
ENST00000610579.4:c.667+95C>T	ENSP00000484952.1:n.667+95C>T
ENST00000618099.4:c.667+95C>T	ENSP00000483552.1:n.667+95C>T
NM_001289823.1:c.667+95C>T	NP_001276752.1:n.667+95C>T
NM_001289824.1:c.667+95C>T	NP_001276753.1:n.667+95C>T
NM_002569.3:c.667+95C>T	NP_002560.1:n.667+95C>T
NM_002569.4:c.667+95C>T MANE Select	NP_002560.1:n.667+95C>T
NM_001289823.2:c.667+95C>T	NP_001276752.1:n.667+95C>T
NM_001289824.2:c.667+95C>T	NP_001276753.1:n.667+95C>T
NM_001382619.1:c.667+95C>T	NP_001369548.1:n.667+95C>T
NM_001382620.1:c.667+95C>T	NP_001369549.1:n.667+95C>T
NM_001382621.1:c.667+95C>T	NP_001369550.1:n.667+95C>T
NM_001382622.1:c.667+95C>T	NP_001369551.1:n.667+95C>T
NR_168464.1:n.892+95C>T