Canonical Allele Identifier: CA321093857
Gene: KCNMB3P1 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.16576248G>T
GRCh37 chr22:g.17057138G>T
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)
dbSNP:
5746647
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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
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