ClinGen Allele Registry
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Canonical Allele Identifier:
CA543891877
Gene:
Linked Data
dbSNP Id:
rs1438360752
gnomAD v2:
3-72315843-A-G
gnomAD v3:
3-72266692-A-G
gnomAD v4:
3-72266692-A-G
MyVariant Identifiers:
chr3:g.72315843A>G (hg19)
chr3:g.72266692A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.72266692A>G , CM000665.2:g.72266692A>G
GRCh38
NC_000003.11:g.72315843A>G , CM000665.1:g.72315843A>G
GRCh37
NC_000003.10:g.72398533A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940958.1:n.835+8416T>C
Search 100 bp 5'
Search 100 bp 3'