Canonical Allele Identifier: CA540034246

Gene: ATG16L1

Linked Data

• dbSNP Id: rs1263263584
• gnomAD v2: 2-234158889-T-C
• gnomAD v3: 2-233250243-T-C
• gnomAD v4: 2-233250243-T-C
• MyVariant Identifiers: chr2:g.234158889T>C (hg19) ; chr2:g.233250243T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233250243T>C , CM000664.2:g.233250243T>C	GRCh38
NC_000002.11:g.234158889T>C , CM000664.1:g.234158889T>C	GRCh37
NC_000002.10:g.233823628T>C	NCBI36
NG_023038.1:g.3673T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000431917.5:c.-137-5859T>C	ENSP00000397512.1:n.-137-5859T>C