Canonical Allele Identifier: CA67532763
Gene: ATG16L1 HGNC NCBI

Linked Data

dbSNP Id: rs975018522
gnomAD v3: 2-233250059-G-C
gnomAD v4: 2-233250059-G-C
MyVariant Identifiers: chr2:g.234158705G>C (hg19) chr2:g.233250059G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233250059G>C , CM000664.2:g.233250059G>C GRCh38
NC_000002.11:g.234158705G>C , CM000664.1:g.234158705G>C GRCh37
NC_000002.10:g.233823444G>C NCBI36
NG_023038.1:g.3489G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000431917.5:c.-137-6043G>C ENSP00000397512.1:n.-137-6043G>C
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