Canonical Allele Identifier: CA31617034
Gene: ITLN1 HGNC NCBI

Linked Data

dbSNP Id: rs534891305
gnomAD v2: 1-160851536-G-C
gnomAD v3: 1-160881746-G-C
gnomAD v4: 1-160881746-G-C
MyVariant Identifiers: chr1:g.160851536G>C (hg19) chr1:g.160881746G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160881746G>C , CM000663.2:g.160881746G>C GRCh38
NC_000001.10:g.160851536G>C , CM000663.1:g.160851536G>C GRCh37
NC_000001.9:g.159118160G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.405+211C>G MANE Select ENSP00000323587.3:n.405+211C>G
ENST00000326245.3:c.405+211C>G ENSP00000323587.3:n.405+211C>G
ENST00000464077.1:n.339+211C>G
NM_017625.2:c.405+211C>G NP_060095.2:n.405+211C>G
NM_017625.3:c.405+211C>G MANE Select NP_060095.2:n.405+211C>G
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