Canonical Allele Identifier: CA3400353

Gene: FNIP1

Linked Data

• ClinVar Variation Id: 2082517
• ClinVar RCV Id: RCV002999197 ; RCV002999196
• dbSNP Id: rs371479580
• ExAC: 5:130982888 T / C
• gnomAD v2: 5-130982888-T-C
• gnomAD v3: 5-131647195-T-C
• gnomAD v4: 5-131647195-T-C
• MyVariant Identifiers: chr5:g.130982888T>C (hg19) ; chr5:g.131647195T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.131647195T>C , CM000667.2:g.131647195T>C	GRCh38
NC_000005.9:g.130982888T>C , CM000667.1:g.130982888T>C	GRCh37
NC_000005.8:g.131010787T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510461.6:c.3317A>G MANE Select	ENSP00000421985.1:p.His1106Arg
ENST00000307954.12:c.3182A>G	ENSP00000310453.8:p.His1061Arg
ENST00000307968.11:c.3233A>G	ENSP00000309266.7:p.His1078Arg
ENST00000510461.5:c.3317A>G	ENSP00000421985.1:p.His1106Arg
ENST00000514667.1:c.220-42502A>G	ENSP00000426948.1:n.220-42502A>G
ENST00000615660.4:c.2573A>G	ENSP00000480650.1:p.His858Arg
NM_001008738.2:c.3233A>G	NP_001008738.2:p.His1078Arg
NM_133372.2:c.3317A>G	NP_588613.2:p.His1106Arg
NM_001346114.1:c.3182A>G	NP_001333043.1:p.His1061Arg
NM_133372.3:c.3317A>G MANE Select	NP_588613.3:p.His1106Arg
NM_001008738.3:c.3233A>G	NP_001008738.3:p.His1078Arg
NM_001346114.2:c.3182A>G	NP_001333043.1:p.His1061Arg