Canonical Allele Identifier: CA545643240

Gene: ILDR1

Linked Data

• dbSNP Id: rs1273036934
• gnomAD v2: 3-121769275-A-G
• gnomAD v3: 3-122050428-A-G
• gnomAD v4: 3-122050428-A-G
• MyVariant Identifiers: chr3:g.121769275A>G (hg19) ; chr3:g.122050428A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122050428A>G , CM000665.2:g.122050428A>G	GRCh38
NC_000003.11:g.121769275A>G , CM000665.1:g.121769275A>G	GRCh37
NC_000003.10:g.123251965A>G	NCBI36
NG_029928.1:g.67A>G
NG_031870.2:g.15127T>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011512739.1:c.-348+9992T>C	XP_011511041.1:n.-348+9992T>C
XM_011512739.2:c.-348+9992T>C	XP_011511041.1:n.-348+9992T>C