Canonical Allele Identifier: CA343066724
Community Standard Title: NM_002249.6(KCNN3):c.1306A>T (p.Ser436Cys)
Gene: KCNN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154772117T>A , CM000663.2:g.154772117T>A GRCh38
NC_000001.10:g.154744593T>A , CM000663.1:g.154744593T>A GRCh37
NC_000001.9:g.153011217T>A NCBI36
NG_016807.2:g.103162A>T

Transcript Alleles

HGVS Amino-acid Change
NM_002249.6:c.1306A>T MANE Select NP_002240.3:p.Ser436Cys
ENST00000271915.9:c.1306A>T MANE Select ENSP00000271915.3:p.Ser436Cys
NM_001204087.1:c.1306A>T NP_001191016.1:p.Ser436Cys
NM_001204087.2:c.1306A>T NP_001191016.1:p.Ser436Cys
NM_001365837.1:c.367A>T NP_001352766.1:p.Ser123Cys
NM_001365838.1:c.367A>T NP_001352767.1:p.Ser123Cys
NM_002249.5:c.1306A>T NP_002240.3:p.Ser436Cys
NM_170782.2:c.391A>T NP_740752.1:p.Ser131Cys
NM_170782.3:c.391A>T NP_740752.1:p.Ser131Cys
ENST00000271915.8:c.1306A>T ENSP00000271915.3:p.Ser436Cys
ENST00000358505.2:c.367A>T ENSP00000351295.2:p.Ser123Cys
ENST00000361147.8:c.391A>T ENSP00000354764.4:p.Ser131Cys
ENST00000618040.4:c.1306A>T ENSP00000481848.1:p.Ser436Cys