Canonical Allele Identifier: CA898088818

Gene: ILDR1

Linked Data

• dbSNP Id: rs1304496386
• gnomAD v3: 3-122050494-T-C
• gnomAD v4: 3-122050494-T-C
• MyVariant Identifiers: chr3:g.121769341T>C (hg19) ; chr3:g.122050494T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122050494T>C , CM000665.2:g.122050494T>C	GRCh38
NC_000003.11:g.121769341T>C , CM000665.1:g.121769341T>C	GRCh37
NC_000003.10:g.123252031T>C	NCBI36
NG_029928.1:g.133T>C
NG_031870.2:g.15061A>G

Transcript Alleles

HGVS	Amino-acid Change
XM_011512739.1:c.-348+9926A>G	XP_011511041.1:n.-348+9926A>G
XM_011512739.2:c.-348+9926A>G	XP_011511041.1:n.-348+9926A>G