Canonical Allele Identifier: CA31617147
Gene: ITLN1 HGNC NCBI

Linked Data

dbSNP Id: rs753251953
gnomAD v2: 1-160851633-C-G
gnomAD v3: 1-160881843-C-G
gnomAD v4: 1-160881843-C-G
MyVariant Identifiers: chr1:g.160851633C>G (hg19) chr1:g.160881843C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160881843C>G , CM000663.2:g.160881843C>G GRCh38
NC_000001.10:g.160851633C>G , CM000663.1:g.160851633C>G GRCh37
NC_000001.9:g.159118257C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.405+114G>C MANE Select ENSP00000323587.3:n.405+114G>C
ENST00000326245.3:c.405+114G>C ENSP00000323587.3:n.405+114G>C
ENST00000464077.1:n.339+114G>C
NM_017625.2:c.405+114G>C NP_060095.2:n.405+114G>C
NM_017625.3:c.405+114G>C MANE Select NP_060095.2:n.405+114G>C
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