Canonical Allele Identifier: CA1202694
Gene: ITLN1 HGNC NCBI

Linked Data

dbSNP Id: rs138862670
ExAC: 1:160851848 T / C
gnomAD v2: 1-160851848-T-C
gnomAD v3: 1-160882058-T-C
gnomAD v4: 1-160882058-T-C
MyVariant Identifiers: chr1:g.160851848T>C (hg19) chr1:g.160882058T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160882058T>C , CM000663.2:g.160882058T>C GRCh38
NC_000001.10:g.160851848T>C , CM000663.1:g.160851848T>C GRCh37
NC_000001.9:g.159118472T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.304A>G MANE Select ENSP00000323587.3:p.Ser102Gly
ENST00000326245.3:c.304A>G ENSP00000323587.3:p.Ser102Gly
ENST00000464077.1:n.238A>G
NM_017625.2:c.304A>G NP_060095.2:p.Ser102Gly
NM_017625.3:c.304A>G MANE Select NP_060095.2:p.Ser102Gly
Search 100 bp 5'
Search 100 bp 3'