Canonical Allele Identifier: CA343307230
Gene: ITLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1670688115
MyVariant Identifiers: chr1:g.160851840C>G (hg19) chr1:g.160882050C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160882050C>G , CM000663.2:g.160882050C>G GRCh38
NC_000001.10:g.160851840C>G , CM000663.1:g.160851840C>G GRCh37
NC_000001.9:g.159118464C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.312G>C MANE Select ENSP00000323587.3:p.Gln104His
ENST00000326245.3:c.312G>C ENSP00000323587.3:p.Gln104His
ENST00000464077.1:n.246G>C
NM_017625.2:c.312G>C NP_060095.2:p.Gln104His
NM_017625.3:c.312G>C MANE Select NP_060095.2:p.Gln104His
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