ClinGen Allele Registry
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Canonical Allele Identifier:
CA32988066
Gene:
Linked Data
dbSNP Id:
rs859637
gnomAD v2:
1-172711000-T-C
gnomAD v3:
1-172741860-T-C
gnomAD v4:
1-172741860-T-C
MyVariant Identifiers:
chr1:g.172711000T>C (hg19)
chr1:g.172741860T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.172741860T>C , CM000663.2:g.172741860T>C
GRCh38
NC_000001.10:g.172711000T>C , CM000663.1:g.172711000T>C
GRCh37
NC_000001.9:g.170977623T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_922289.1:n.27-33959T>C
Search 100 bp 5'
Search 100 bp 3'