Canonical Allele Identifier: CA343307230

Gene: ITLN1

Linked Data

• dbSNP Id: rs1670688115
• MyVariant Identifiers: chr1:g.160851840C>G (hg19) ; chr1:g.160882050C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160882050C>G , CM000663.2:g.160882050C>G	GRCh38
NC_000001.10:g.160851840C>G , CM000663.1:g.160851840C>G	GRCh37
NC_000001.9:g.159118464C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326245.4:c.312G>C MANE Select	ENSP00000323587.3:p.Gln104His
ENST00000326245.3:c.312G>C	ENSP00000323587.3:p.Gln104His
ENST00000464077.1:n.246G>C
NM_017625.2:c.312G>C	NP_060095.2:p.Gln104His
NM_017625.3:c.312G>C MANE Select	NP_060095.2:p.Gln104His