Canonical Allele Identifier: CA31617004

Gene: ITLN1

Linked Data

• dbSNP Id: rs11265507
• gnomAD v2: 1-160851471-C-T
• gnomAD v3: 1-160881681-C-T
• gnomAD v4: 1-160881681-C-T
• MyVariant Identifiers: chr1:g.160851471C>T (hg19) ; chr1:g.160881681C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160881681C>T , CM000663.2:g.160881681C>T	GRCh38
NC_000001.10:g.160851471C>T , CM000663.1:g.160851471C>T	GRCh37
NC_000001.9:g.159118095C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326245.4:c.405+276G>A MANE Select	ENSP00000323587.3:n.405+276G>A
ENST00000326245.3:c.405+276G>A	ENSP00000323587.3:n.405+276G>A
ENST00000464077.1:n.339+276G>A
NM_017625.2:c.405+276G>A	NP_060095.2:n.405+276G>A
NM_017625.3:c.405+276G>A MANE Select	NP_060095.2:n.405+276G>A