Canonical Allele Identifier: CA1202673
Gene: ITLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2380761
ClinVar RCV Id: RCV002679248
dbSNP Id: rs374067201
ExAC: 1:160851753 G / C
gnomAD v2: 1-160851753-G-C
gnomAD v3: 1-160881963-G-C
gnomAD v4: 1-160881963-G-C
MyVariant Identifiers: chr1:g.160851753G>C (hg19) chr1:g.160881963G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160881963G>C , CM000663.2:g.160881963G>C GRCh38
NC_000001.10:g.160851753G>C , CM000663.1:g.160851753G>C GRCh37
NC_000001.9:g.159118377G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000326245.4:c.399C>G MANE Select ENSP00000323587.3:p.Asp133Glu
ENST00000326245.3:c.399C>G ENSP00000323587.3:p.Asp133Glu
ENST00000464077.1:n.333C>G
NM_017625.2:c.399C>G NP_060095.2:p.Asp133Glu
NM_017625.3:c.399C>G MANE Select NP_060095.2:p.Asp133Glu
Search 100 bp 5'
Search 100 bp 3'