Canonical Allele Identifier: CA14174122
Gene: FURIN HGNC NCBI

Linked Data

dbSNP Id: rs6227
gnomAD v2: 15-91425232-C-T
gnomAD v3: 15-90882002-C-T
gnomAD v4: 15-90882002-C-T
MyVariant Identifiers: chr15:g.91425232C>T (hg19) chr15:g.90882002C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90882002C>T , CM000677.2:g.90882002C>T GRCh38
NC_000015.9:g.91425232C>T , CM000677.1:g.91425232C>T GRCh37
NC_000015.8:g.89226236C>T NCBI36
NG_029671.1:g.2545C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000268171.8:c.*124C>T MANE Select ENSP00000268171.2:n.*124C>T
ENST00000680053.1:c.*124C>T ENSP00000506143.1:n.*124C>T
ENST00000680086.1:n.323+265C>T
ENST00000680687.1:c.*1733C>T ENSP00000505177.1:n.*1733C>T
ENST00000681804.1:c.*1869C>T ENSP00000505828.1:n.*1869C>T
ENST00000681865.1:c.*124C>T ENSP00000505303.1:n.*124C>T
ENST00000268171.7:c.*124C>T ENSP00000268171.2:n.*124C>T
ENST00000610579.4:c.*124C>T ENSP00000484952.1:n.*124C>T
ENST00000618099.4:c.*124C>T ENSP00000483552.1:n.*124C>T
NM_001289823.1:c.*124C>T NP_001276752.1:n.*124C>T
NM_001289824.1:c.*124C>T NP_001276753.1:n.*124C>T
NM_002569.3:c.*124C>T NP_002560.1:n.*124C>T
NM_002569.4:c.*124C>T MANE Select NP_002560.1:n.*124C>T
NM_001289823.2:c.*124C>T NP_001276752.1:n.*124C>T
NM_001289824.2:c.*124C>T NP_001276753.1:n.*124C>T
NM_001382619.1:c.*124C>T NP_001369548.1:n.*124C>T
NM_001382620.1:c.*124C>T NP_001369549.1:n.*124C>T
NM_001382621.1:c.*124C>T NP_001369550.1:n.*124C>T
NM_001382622.1:c.*540C>T NP_001369551.1:n.*540C>T
NR_168464.1:n.2732C>T
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