Canonical Allele Identifier: CA3400484

Gene: FNIP1

Linked Data

• ClinVar Variation Id: 2045748
• ClinVar RCV Id: RCV002900600
• dbSNP Id: rs61746600
• ExAC: 5:131007487 A / G
• gnomAD v2: 5-131007487-A-G
• gnomAD v3: 5-131671794-A-G
• gnomAD v4: 5-131671794-A-G
• MyVariant Identifiers: chr5:g.131007487A>G (hg19) ; chr5:g.131671794A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.131671794A>G , CM000667.2:g.131671794A>G	GRCh38
NC_000005.9:g.131007487A>G , CM000667.1:g.131007487A>G	GRCh37
NC_000005.8:g.131035386A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510461.6:c.2650T>C MANE Select	ENSP00000421985.1:p.Phe884Leu
ENST00000307954.12:c.2515T>C	ENSP00000310453.8:p.Phe839Leu
ENST00000307968.11:c.2566T>C	ENSP00000309266.7:p.Phe856Leu
ENST00000510461.5:c.2650T>C	ENSP00000421985.1:p.Phe884Leu
ENST00000514667.1:c.220-67101T>C	ENSP00000426948.1:n.220-67101T>C
ENST00000615660.4:c.1906T>C	ENSP00000480650.1:p.Phe636Leu
NM_001008738.2:c.2566T>C	NP_001008738.2:p.Phe856Leu
NM_133372.2:c.2650T>C	NP_588613.2:p.Phe884Leu
NM_001346114.1:c.2515T>C	NP_001333043.1:p.Phe839Leu
NM_133372.3:c.2650T>C MANE Select	NP_588613.3:p.Phe884Leu
NM_001008738.3:c.2566T>C	NP_001008738.3:p.Phe856Leu
NM_001346114.2:c.2515T>C	NP_001333043.1:p.Phe839Leu