ClinGen Allele Registry
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Canonical Allele Identifier:
CA11867684
Gene:
Linked Data
dbSNP Id:
rs13135284
gnomAD v2:
4-154864750-T-C
gnomAD v3:
4-153943598-T-C
gnomAD v4:
4-153943598-T-C
MyVariant Identifiers:
chr4:g.154864750T>C (hg19)
chr4:g.153943598T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.153943598T>C , CM000666.2:g.153943598T>C
GRCh38
NC_000004.11:g.154864750T>C , CM000666.1:g.154864750T>C
GRCh37
NC_000004.10:g.155084200T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001741892.1:n.1348-5223T>C
Search 100 bp 5'
Search 100 bp 3'