ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA321093857
Gene: KCNMB3P1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr22:g.16576248G>T
GRCh37
chr22:g.17057138G>T
Linked Data - Sequence & Population
gnomAD v2:
22:17057138 G / T
gnomAD v3:
22:16576248 G / T
gnomAD v4:
chr22-16576248-G-T
Joint Max Group AF
0.9744222 (EAS)
Genomes Max Group AF
0.96616956 (EAS)
Exomes Max Group AF
0.97052497 (EAS)
Linked Data - NCBI & NCI
dbSNP:
5746647
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.16576248G>T , CM000684.2:g.16576248G>T
GRCh38
NC_000022.10:g.17057138G>T , CM000684.1:g.17057138G>T
GRCh37
NC_000022.9:g.15437138G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000493696.2:n.2504C>A
Search 100 bp 5'
Search 100 bp 3'