ClinGen Allele Registry
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Canonical Allele Identifier:
CA166591542
Gene:
Linked Data
dbSNP Id:
rs116895242
gnomAD v2:
7-123946403-T-A
gnomAD v3:
7-124306349-T-A
gnomAD v4:
7-124306349-T-A
MyVariant Identifiers:
chr7:g.123946403T>A (hg19)
chr7:g.124306349T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.124306349T>A , CM000669.2:g.124306349T>A
GRCh38
NC_000007.13:g.123946403T>A , CM000669.1:g.123946403T>A
GRCh37
NC_000007.12:g.123733639T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002956584.1:n.73-129T>A
Search 100 bp 5'
Search 100 bp 3'