ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA572945249
Gene: STEAP1B
HGNC
NCBI
Linked Data
dbSNP Id:
rs1223296938
gnomAD v2:
7-22760408-G-C
gnomAD v3:
7-22720789-G-C
gnomAD v4:
7-22720789-G-C
MyVariant Identifiers:
chr7:g.22760408G>C (hg19)
chr7:g.22720789G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.22720789G>C , CM000669.2:g.22720789G>C
GRCh38
NC_000007.13:g.22760408G>C , CM000669.1:g.22760408G>C
GRCh37
NC_000007.12:g.22726933G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000650428.1:n.46+6779C>G
Search 100 bp 5'
Search 100 bp 3'