Canonical Allele Identifier: CA527133861
Gene: ITLN1 HGNC NCBI

Linked Data

dbSNP Id: rs553496651
gnomAD v2: 1-160851587-G-T
gnomAD v3: 1-160881797-G-T
gnomAD v4: 1-160881797-G-T
MyVariant Identifiers: chr1:g.160851587G>T (hg19) chr1:g.160881797G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160881797G>T , CM000663.2:g.160881797G>T GRCh38
NC_000001.10:g.160851587G>T , CM000663.1:g.160851587G>T GRCh37
NC_000001.9:g.159118211G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.405+160C>A MANE Select ENSP00000323587.3:n.405+160C>A
ENST00000326245.3:c.405+160C>A ENSP00000323587.3:n.405+160C>A
ENST00000464077.1:n.339+160C>A
NM_017625.2:c.405+160C>A NP_060095.2:n.405+160C>A
NM_017625.3:c.405+160C>A MANE Select NP_060095.2:n.405+160C>A
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