Canonical Allele Identifier: CA1202743
Gene: ITLN1 HGNC NCBI
COSMIC:
COSN15315227 (not active)
MyVariant.info:
GRCh38 chr1:g.160882256T>C
GRCh37 chr1:g.160852046T>C
gnomAD v2:
1:160852046 T / C
gnomAD v3:
1:160882256 T / C
gnomAD v4:
chr1-160882256-T-C
Joint Max Group AF 0.69448857 (AMR)
Genomes Max Group AF 0.67507218 (NFE)
Exomes Max Group AF 0.705486 (AMR)
dbSNP:
2274910
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160882256T>C , CM000663.2:g.160882256T>C GRCh38
NC_000001.10:g.160852046T>C , CM000663.1:g.160852046T>C GRCh37
NC_000001.9:g.159118670T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.158-52A>G MANE Select ENSP00000323587.3:n.158-52A>G
ENST00000326245.3:c.158-52A>G ENSP00000323587.3:n.158-52A>G
ENST00000464077.1:n.40A>G
NM_017625.2:c.158-52A>G NP_060095.2:n.158-52A>G
NM_017625.3:c.158-52A>G MANE Select NP_060095.2:n.158-52A>G
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