Canonical Allele Identifier: CA10688934

Gene: ITLN1

Linked Data

• dbSNP Id: rs7532133
• gnomAD v2: 1-160851534-A-G
• gnomAD v3: 1-160881744-A-G
• gnomAD v4: 1-160881744-A-G
• MyVariant Identifiers: chr1:g.160851534A>G (hg19) ; chr1:g.160881744A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160881744A>G , CM000663.2:g.160881744A>G	GRCh38
NC_000001.10:g.160851534A>G , CM000663.1:g.160851534A>G	GRCh37
NC_000001.9:g.159118158A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326245.4:c.405+213T>C MANE Select	ENSP00000323587.3:n.405+213T>C
ENST00000326245.3:c.405+213T>C	ENSP00000323587.3:n.405+213T>C
ENST00000464077.1:n.339+213T>C
NM_017625.2:c.405+213T>C	NP_060095.2:n.405+213T>C
NM_017625.3:c.405+213T>C MANE Select	NP_060095.2:n.405+213T>C