Canonical Allele Identifier: CA360794924

Gene: FNIP1

Linked Data

• ClinVar Variation Id: 1705847
• ClinVar RCV Id: RCV002284155
• MyVariant Identifiers: chr5:g.130980457C>A (hg19) ; chr5:g.131644764C>A (hg38)
• MutSpliceDB: CA360794924

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.131644764C>A , CM000667.2:g.131644764C>A	GRCh38
NC_000005.9:g.130980457C>A , CM000667.1:g.130980457C>A	GRCh37
NC_000005.8:g.131008356C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510461.6:c.3423-1G>T MANE Select	ENSP00000421985.1:n.3423-1G>T
ENST00000307954.12:c.3288-1G>T	ENSP00000310453.8:n.3288-1G>T
ENST00000307968.11:c.3339-1G>T	ENSP00000309266.7:n.3339-1G>T
ENST00000510461.5:c.3423-1G>T	ENSP00000421985.1:n.3423-1G>T
ENST00000514667.1:c.220-40071G>T	ENSP00000426948.1:n.220-40071G>T
ENST00000615660.4:c.2679-1G>T	ENSP00000480650.1:n.2679-1G>T
NM_001008738.2:c.3339-1G>T	NP_001008738.2:n.3339-1G>T
NM_133372.2:c.3423-1G>T	NP_588613.2:n.3423-1G>T
NM_001346114.1:c.3288-1G>T	NP_001333043.1:n.3288-1G>T
NM_133372.3:c.3423-1G>T MANE Select	NP_588613.3:n.3423-1G>T
NM_001008738.3:c.3339-1G>T	NP_001008738.3:n.3339-1G>T
NM_001346114.2:c.3288-1G>T	NP_001333043.1:n.3288-1G>T