Canonical Allele Identifier: CA545643254
Gene: ILDR1 HGNC NCBI

Linked Data

dbSNP Id: rs1396911906
gnomAD v2: 3-121769403-A-C
gnomAD v3: 3-122050556-A-C
gnomAD v4: 3-122050556-A-C
MyVariant Identifiers: chr3:g.121769403A>C (hg19) chr3:g.122050556A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122050556A>C , CM000665.2:g.122050556A>C GRCh38
NC_000003.11:g.121769403A>C , CM000665.1:g.121769403A>C GRCh37
NC_000003.10:g.123252093A>C NCBI36
NG_029928.1:g.195A>C
NG_031870.2:g.14999T>G

Transcript Alleles

HGVS Amino-acid Change
XM_011512739.1:c.-348+9864T>G XP_011511041.1:n.-348+9864T>G
XM_011512739.2:c.-348+9864T>G XP_011511041.1:n.-348+9864T>G
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