Canonical Allele Identifier: CA31617663
Gene: ITLN1 HGNC NCBI

Linked Data

dbSNP Id: rs538700799
gnomAD v4: 1-160882433-A-G
MyVariant Identifiers: chr1:g.160852223A>G (hg19) chr1:g.160882433A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160882433A>G , CM000663.2:g.160882433A>G GRCh38
NC_000001.10:g.160852223A>G , CM000663.1:g.160852223A>G GRCh37
NC_000001.9:g.159118847A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.158-229T>C MANE Select ENSP00000323587.3:n.158-229T>C
ENST00000326245.3:c.158-229T>C ENSP00000323587.3:n.158-229T>C
NM_017625.2:c.158-229T>C NP_060095.2:n.158-229T>C
NM_017625.3:c.158-229T>C MANE Select NP_060095.2:n.158-229T>C
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