Canonical Allele Identifier: CA31617791
Gene: ITLN1 HGNC NCBI

Linked Data

dbSNP Id: rs942309162
gnomAD v2: 1-160852417-C-T
gnomAD v3: 1-160882627-C-T
gnomAD v4: 1-160882627-C-T
MyVariant Identifiers: chr1:g.160852417C>T (hg19) chr1:g.160882627C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160882627C>T , CM000663.2:g.160882627C>T GRCh38
NC_000001.10:g.160852417C>T , CM000663.1:g.160852417C>T GRCh37
NC_000001.9:g.159119041C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.158-423G>A MANE Select ENSP00000323587.3:n.158-423G>A
ENST00000326245.3:c.158-423G>A ENSP00000323587.3:n.158-423G>A
NM_017625.2:c.158-423G>A NP_060095.2:n.158-423G>A
NM_017625.3:c.158-423G>A MANE Select NP_060095.2:n.158-423G>A
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