Canonical Allele Identifier: CA82740814
Gene: ILDR1 HGNC NCBI

Linked Data

dbSNP Id: rs185717894
gnomAD v2: 3-121769347-C-T
gnomAD v3: 3-122050500-C-T
gnomAD v4: 3-122050500-C-T
MyVariant Identifiers: chr3:g.121769347C>T (hg19) chr3:g.122050500C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122050500C>T , CM000665.2:g.122050500C>T GRCh38
NC_000003.11:g.121769347C>T , CM000665.1:g.121769347C>T GRCh37
NC_000003.10:g.123252037C>T NCBI36
NG_029928.1:g.139C>T
NG_031870.2:g.15055G>A

Transcript Alleles

HGVS Amino-acid Change
XM_011512739.1:c.-348+9920G>A XP_011511041.1:n.-348+9920G>A
XM_011512739.2:c.-348+9920G>A XP_011511041.1:n.-348+9920G>A
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