Canonical Allele Identifier: CA82740806
Gene: ILDR1 HGNC NCBI

Linked Data

dbSNP Id: rs1031276762
gnomAD v2: 3-121769345-G-A
gnomAD v3: 3-122050498-G-A
gnomAD v4: 3-122050498-G-A
MyVariant Identifiers: chr3:g.121769345G>A (hg19) chr3:g.122050498G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122050498G>A , CM000665.2:g.122050498G>A GRCh38
NC_000003.11:g.121769345G>A , CM000665.1:g.121769345G>A GRCh37
NC_000003.10:g.123252035G>A NCBI36
NG_029928.1:g.137G>A
NG_031870.2:g.15057C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011512739.1:c.-348+9922C>T XP_011511041.1:n.-348+9922C>T
XM_011512739.2:c.-348+9922C>T XP_011511041.1:n.-348+9922C>T
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