Canonical Allele Identifier: CA343069280
Community Standard Title: NM_002249.6(KCNN3):c.1606G>A (p.Ala536Thr)
Gene: KCNN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154726011C>T , CM000663.2:g.154726011C>T GRCh38
NC_000001.10:g.154698487C>T , CM000663.1:g.154698487C>T GRCh37
NC_000001.9:g.152965111C>T NCBI36
NG_016807.2:g.149268G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002249.6:c.1606G>A MANE Select NP_002240.3:p.Ala536Thr
ENST00000271915.9:c.1606G>A MANE Select ENSP00000271915.3:p.Ala536Thr
NM_001204087.1:c.1651G>A NP_001191016.1:p.Ala551Thr
NM_001204087.2:c.1651G>A NP_001191016.1:p.Ala551Thr
NM_001365837.1:c.712G>A NP_001352766.1:p.Ala238Thr
NM_001365838.1:c.667G>A NP_001352767.1:p.Ala223Thr
NM_002249.5:c.1606G>A NP_002240.3:p.Ala536Thr
NM_170782.2:c.691G>A NP_740752.1:p.Ala231Thr
NM_170782.3:c.691G>A NP_740752.1:p.Ala231Thr
ENST00000271915.8:c.1606G>A ENSP00000271915.3:p.Ala536Thr
ENST00000358505.2:c.667G>A ENSP00000351295.2:p.Ala223Thr
ENST00000361147.8:c.691G>A ENSP00000354764.4:p.Ala231Thr
ENST00000618040.4:c.1651G>A ENSP00000481848.1:p.Ala551Thr