Canonical Allele Identifier: CA1202743

Gene: ITLN1

Linked Data

• dbSNP Id: rs2274910
• ExAC: 1:160852046 T / C
• gnomAD v2: 1-160852046-T-C
• gnomAD v3: 1-160882256-T-C
• gnomAD v4: 1-160882256-T-C
• MyVariant Identifiers: chr1:g.160852046T>C (hg19) ; chr1:g.160882256T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160882256T>C , CM000663.2:g.160882256T>C	GRCh38
NC_000001.10:g.160852046T>C , CM000663.1:g.160852046T>C	GRCh37
NC_000001.9:g.159118670T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000326245.4:c.158-52A>G MANE Select	ENSP00000323587.3:n.158-52A>G
ENST00000326245.3:c.158-52A>G	ENSP00000323587.3:n.158-52A>G
ENST00000464077.1:n.40A>G
NM_017625.2:c.158-52A>G	NP_060095.2:n.158-52A>G
NM_017625.3:c.158-52A>G MANE Select	NP_060095.2:n.158-52A>G