ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA572945219
Gene: STEAP1B
HGNC
NCBI
Linked Data
dbSNP Id:
rs1180215991
gnomAD v2:
7-22759551-T-C
gnomAD v3:
7-22719932-T-C
gnomAD v4:
7-22719932-T-C
MyVariant Identifiers:
chr7:g.22759551T>C (hg19)
chr7:g.22719932T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.22719932T>C , CM000669.2:g.22719932T>C
GRCh38
NC_000007.13:g.22759551T>C , CM000669.1:g.22759551T>C
GRCh37
NC_000007.12:g.22726076T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000650428.1:n.46+7636A>G
Search 100 bp 5'
Search 100 bp 3'