Canonical Allele Identifier: CA343067350
Community Standard Title: NM_002249.6(KCNN3):c.1049G>A (p.Gly350Asp)
Gene: KCNN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154772374C>T , CM000663.2:g.154772374C>T GRCh38
NC_000001.10:g.154744850C>T , CM000663.1:g.154744850C>T GRCh37
NC_000001.9:g.153011474C>T NCBI36
NG_016807.2:g.102905G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002249.6:c.1049G>A MANE Select NP_002240.3:p.Gly350Asp
ENST00000271915.9:c.1049G>A MANE Select ENSP00000271915.3:p.Gly350Asp
NM_001204087.1:c.1049G>A NP_001191016.1:p.Gly350Asp
NM_001204087.2:c.1049G>A NP_001191016.1:p.Gly350Asp
NM_001365837.1:c.110G>A NP_001352766.1:p.Gly37Asp
NM_001365838.1:c.110G>A NP_001352767.1:p.Gly37Asp
NM_002249.5:c.1049G>A NP_002240.3:p.Gly350Asp
NM_170782.2:c.134G>A NP_740752.1:p.Gly45Asp
NM_170782.3:c.134G>A NP_740752.1:p.Gly45Asp
ENST00000271915.8:c.1049G>A ENSP00000271915.3:p.Gly350Asp
ENST00000358505.2:c.110G>A ENSP00000351295.2:p.Gly37Asp
ENST00000361147.8:c.134G>A ENSP00000354764.4:p.Gly45Asp
ENST00000618040.4:c.1049G>A ENSP00000481848.1:p.Gly350Asp