Canonical Allele Identifier: CA31617177
Gene: ITLN1 HGNC NCBI

Linked Data

dbSNP Id: rs951118297
gnomAD v4: 1-160881912-C-T
MyVariant Identifiers: chr1:g.160881912C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160881912C>T , CM000663.2:g.160881912C>T GRCh38
NC_000001.10:g.160851702C>T , CM000663.1:g.160851702C>T GRCh37
NC_000001.9:g.159118326C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.405+45G>A MANE Select ENSP00000323587.3:n.405+45G>A
ENST00000326245.3:c.405+45G>A ENSP00000323587.3:n.405+45G>A
ENST00000464077.1:n.339+45G>A
NM_017625.2:c.405+45G>A NP_060095.2:n.405+45G>A
NM_017625.3:c.405+45G>A MANE Select NP_060095.2:n.405+45G>A
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