ClinGen Allele Registry
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Canonical Allele Identifier:
CA200491711
Gene:
Linked Data
dbSNP Id:
rs4837388
gnomAD v2:
9-132339142-T-G
gnomAD v3:
9-129576863-T-G
gnomAD v4:
9-129576863-T-G
MyVariant Identifiers:
chr9:g.132339142T>G (hg19)
chr9:g.129576863T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.129576863T>G , CM000671.2:g.129576863T>G
GRCh38
NC_000009.11:g.132339142T>G , CM000671.1:g.132339142T>G
GRCh37
NC_000009.10:g.131378963T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_930390.1:n.182+1265T>G
Search 100 bp 5'
Search 100 bp 3'