Canonical Allele Identifier: CA343307304
Gene: ITLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1670688982
gnomAD v3: 1-160882084-T-G
gnomAD v4: 1-160882084-T-G
MyVariant Identifiers: chr1:g.160851874T>G (hg19) chr1:g.160882084T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160882084T>G , CM000663.2:g.160882084T>G GRCh38
NC_000001.10:g.160851874T>G , CM000663.1:g.160851874T>G GRCh37
NC_000001.9:g.159118498T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000326245.4:c.278A>C MANE Select ENSP00000323587.3:p.Lys93Thr
ENST00000326245.3:c.278A>C ENSP00000323587.3:p.Lys93Thr
ENST00000464077.1:n.212A>C
NM_017625.2:c.278A>C NP_060095.2:p.Lys93Thr
NM_017625.3:c.278A>C MANE Select NP_060095.2:p.Lys93Thr
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