Canonical Allele Identifier: CA1132326

Gene: KCNN3

Linked Data

• ClinVar Variation Id: 403003
• ClinVar RCV Id: RCV000454867 ; RCV001618693
• dbSNP Id: rs3831942
• ExAC: 1:154842199 G / GGCTGCTGCTGCT
• gnomAD v3: 1-154869723-G-GGCTGCTGCTGCT
• gnomAD v4: 1-154869723-G-GGCTGCTGCTGCT
• COSMIC: COSM896660
• MyVariant Identifiers: chr1:g.154842202_154842203insGCTGCTGCTGCT (hg19) ; chr1:g.154842199_154842200insGCTGCTGCTGCT (hg19) ; chr1:g.154869723_154869724insGCTGCTGCTGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154869755_154869766dup , CM000663.2:g.154869755_154869766dup	GRCh38
NC_000001.10:g.154842231_154842242dup , CM000663.1:g.154842231_154842242dup	GRCh37
NC_000001.9:g.153108855_153108866dup	NCBI36
NG_016807.2:g.5544_5555dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271915.9:c.230_241dup MANE Select	ENSP00000271915.3:p.Gln80_Pro81insGlnGlnGlnGln
ENST00000271915.8:c.230_241dup	ENSP00000271915.3:p.Gln80_Pro81insGlnGlnGlnGln
ENST00000618040.4:c.230_241dup	ENSP00000481848.1:p.Gln80_Pro81insGlnGlnGlnGln
NM_001204087.1:c.230_241dup	NP_001191016.1:p.Gln80_Pro81insGlnGlnGlnGln
NM_002249.5:c.230_241dup	NP_002240.3:p.Gln80_Pro81insGlnGlnGlnGln
NM_002249.6:c.230_241dup MANE Select	NP_002240.3:p.Gln80_Pro81insGlnGlnGlnGln
NM_001204087.2:c.230_241dup	NP_001191016.1:p.Gln80_Pro81insGlnGlnGlnGln