Canonical Allele Identifier: CA82740944
Gene: ILDR1 HGNC NCBI

Linked Data

dbSNP Id: rs74470800
gnomAD v2: 3-121769514-A-C
gnomAD v3: 3-122050667-A-C
gnomAD v4: 3-122050667-A-C
MyVariant Identifiers: chr3:g.121769514A>C (hg19) chr3:g.122050667A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122050667A>C , CM000665.2:g.122050667A>C GRCh38
NC_000003.11:g.121769514A>C , CM000665.1:g.121769514A>C GRCh37
NC_000003.10:g.123252204A>C NCBI36
NG_029928.1:g.306A>C
NG_031870.2:g.14888T>G

Transcript Alleles

HGVS Amino-acid Change
XM_011512739.1:c.-348+9753T>G XP_011511041.1:n.-348+9753T>G
XM_011512739.2:c.-348+9753T>G XP_011511041.1:n.-348+9753T>G
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