ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA574382228
Gene:
Linked Data
dbSNP Id:
rs1251726851
gnomAD v2:
7-46072610-T-C
gnomAD v3:
7-46033012-T-C
gnomAD v4:
7-46033012-T-C
MyVariant Identifiers:
chr7:g.46072610T>C (hg19)
chr7:g.46033012T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.46033012T>C , CM000669.2:g.46033012T>C
GRCh38
NC_000007.13:g.46072610T>C , CM000669.1:g.46072610T>C
GRCh37
NC_000007.12:g.46039135T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745203.1:n.1270-3606T>C
Search 100 bp 5'
Search 100 bp 3'