ClinGen Allele Registry
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Canonical Allele Identifier:
CA13885402
Gene:
Linked Data
dbSNP Id:
rs17648246
gnomAD v2:
13-45493881-A-G
gnomAD v3:
13-44919746-A-G
gnomAD v4:
13-44919746-A-G
MyVariant Identifiers:
chr13:g.45493881A>G (hg19)
chr13:g.44919746A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.44919746A>G , CM000675.2:g.44919746A>G
GRCh38
NC_000013.10:g.45493881A>G , CM000675.1:g.45493881A>G
GRCh37
NC_000013.9:g.44391881A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001749860.1:n.1474+3761T>C
Search 100 bp 5'
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