Canonical Allele Identifier: CA526865828

Gene: ITLN1

Linked Data

• dbSNP Id: rs1440620235
• gnomAD v2: 1-160852174-A-G
• gnomAD v3: 1-160882384-A-G
• gnomAD v4: 1-160882384-A-G
• MyVariant Identifiers: chr1:g.160852174A>G (hg19) ; chr1:g.160882384A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160882384A>G , CM000663.2:g.160882384A>G	GRCh38
NC_000001.10:g.160852174A>G , CM000663.1:g.160852174A>G	GRCh37
NC_000001.9:g.159118798A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326245.4:c.158-180T>C MANE Select	ENSP00000323587.3:n.158-180T>C
ENST00000326245.3:c.158-180T>C	ENSP00000323587.3:n.158-180T>C
NM_017625.2:c.158-180T>C	NP_060095.2:n.158-180T>C
NM_017625.3:c.158-180T>C MANE Select	NP_060095.2:n.158-180T>C