Canonical Allele Identifier: CA82740912
Gene: ILDR1 HGNC NCBI

Linked Data

dbSNP Id: rs907807918
gnomAD v3: 3-122050627-C-A
gnomAD v4: 3-122050627-C-A
MyVariant Identifiers: chr3:g.121769474C>A (hg19) chr3:g.122050627C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122050627C>A , CM000665.2:g.122050627C>A GRCh38
NC_000003.11:g.121769474C>A , CM000665.1:g.121769474C>A GRCh37
NC_000003.10:g.123252164C>A NCBI36
NG_029928.1:g.266C>A
NG_031870.2:g.14928G>T

Transcript Alleles

HGVS Amino-acid Change
XM_011512739.1:c.-348+9793G>T XP_011511041.1:n.-348+9793G>T
XM_011512739.2:c.-348+9793G>T XP_011511041.1:n.-348+9793G>T
Search 100 bp 5'
Search 100 bp 3'