Canonical Allele Identifier: CA67532811
Gene: ATG16L1 HGNC NCBI

Linked Data

dbSNP Id: rs560439137
gnomAD v3: 2-233250076-C-T
gnomAD v4: 2-233250076-C-T
MyVariant Identifiers: chr2:g.234158722C>T (hg19) chr2:g.233250076C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233250076C>T , CM000664.2:g.233250076C>T GRCh38
NC_000002.11:g.234158722C>T , CM000664.1:g.234158722C>T GRCh37
NC_000002.10:g.233823461C>T NCBI36
NG_023038.1:g.3506C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000431917.5:c.-137-6026C>T ENSP00000397512.1:n.-137-6026C>T
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