ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA15831809
Gene:
Linked Data
dbSNP Id:
rs11847263
gnomAD v2:
14-65775695-T-G
gnomAD v3:
14-65308977-T-G
gnomAD v4:
14-65308977-T-G
MyVariant Identifiers:
chr14:g.65775695T>G (hg19)
chr14:g.65308977T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.65308977T>G , CM000676.2:g.65308977T>G
GRCh38
NC_000014.8:g.65775695T>G , CM000676.1:g.65775695T>G
GRCh37
NC_000014.7:g.64845448T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_943945.1:n.271+9514A>C
Search 100 bp 5'
Search 100 bp 3'