Canonical Allele Identifier: CA343307347
Gene: ITLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2305759
ClinVar RCV Id: RCV004155082
dbSNP Id: rs1670689448
gnomAD v4: 1-160882103-C-T
COSMIC: COSM1733496
MyVariant Identifiers: chr1:g.160851893C>T (hg19) chr1:g.160882103C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160882103C>T , CM000663.2:g.160882103C>T GRCh38
NC_000001.10:g.160851893C>T , CM000663.1:g.160851893C>T GRCh37
NC_000001.9:g.159118517C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.259G>A MANE Select ENSP00000323587.3:p.Glu87Lys
ENST00000326245.3:c.259G>A ENSP00000323587.3:p.Glu87Lys
ENST00000464077.1:n.193G>A
NM_017625.2:c.259G>A NP_060095.2:p.Glu87Lys
NM_017625.3:c.259G>A MANE Select NP_060095.2:p.Glu87Lys
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Search 100 bp 3'