ClinGen Allele Registry
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Canonical Allele Identifier:
CA11987385
Gene:
Linked Data
dbSNP Id:
rs7711337
gnomAD v2:
5-162083518-G-A
gnomAD v3:
5-162656512-G-A
gnomAD v4:
5-162656512-G-A
MyVariant Identifiers:
chr5:g.162083518G>A (hg19)
chr5:g.162656512G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.162656512G>A , CM000667.2:g.162656512G>A
GRCh38
NC_000005.9:g.162083518G>A , CM000667.1:g.162083518G>A
GRCh37
NC_000005.8:g.162016096G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001742958.1:n.418+3590C>T
Search 100 bp 5'
Search 100 bp 3'