Canonical Allele Identifier: CA343307155

Gene: ITLN1

Linked Data

• dbSNP Id: rs1670686993
• gnomAD v3: 1-160882015-T-C
• gnomAD v4: 1-160882015-T-C
• MyVariant Identifiers: chr1:g.160851805T>C (hg19) ; chr1:g.160882015T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160882015T>C , CM000663.2:g.160882015T>C	GRCh38
NC_000001.10:g.160851805T>C , CM000663.1:g.160851805T>C	GRCh37
NC_000001.9:g.159118429T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326245.4:c.347A>G MANE Select	ENSP00000323587.3:p.Asn116Ser
ENST00000326245.3:c.347A>G	ENSP00000323587.3:p.Asn116Ser
ENST00000464077.1:n.281A>G
NM_017625.2:c.347A>G	NP_060095.2:p.Asn116Ser
NM_017625.3:c.347A>G MANE Select	NP_060095.2:p.Asn116Ser