Canonical Allele Identifier: CA1131905
Community Standard Title: NM_002249.6(KCNN3):c.2141T>C (p.Ile714Thr)
Gene: KCNN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154708031A>G , CM000663.2:g.154708031A>G GRCh38
NC_000001.10:g.154680507A>G , CM000663.1:g.154680507A>G GRCh37
NC_000001.9:g.152947131A>G NCBI36
NG_016807.2:g.167248T>C

Transcript Alleles

HGVS Amino-acid Change
NM_002249.6:c.2141T>C MANE Select NP_002240.3:p.Ile714Thr
ENST00000271915.9:c.2141T>C MANE Select ENSP00000271915.3:p.Ile714Thr
NM_001204087.1:c.2186T>C NP_001191016.1:p.Ile729Thr
NM_001204087.2:c.2186T>C NP_001191016.1:p.Ile729Thr
NM_001365837.1:c.1247T>C NP_001352766.1:p.Ile416Thr
NM_001365838.1:c.1202T>C NP_001352767.1:p.Ile401Thr
NM_002249.5:c.2141T>C NP_002240.3:p.Ile714Thr
NM_170782.2:c.1226T>C NP_740752.1:p.Ile409Thr
NM_170782.3:c.1226T>C NP_740752.1:p.Ile409Thr
ENST00000271915.8:c.2141T>C ENSP00000271915.3:p.Ile714Thr
ENST00000358505.2:c.1202T>C ENSP00000351295.2:p.Ile401Thr
ENST00000361147.8:c.1226T>C ENSP00000354764.4:p.Ile409Thr
ENST00000515643.1:n.196T>C
ENST00000618040.4:c.2186T>C ENSP00000481848.1:p.Ile729Thr