Canonical Allele Identifier: CA2366061694
Gene: KCNS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45093246G= , CM000682.2:g.45093246G= GRCh38
NC_000020.10:g.43721887G= , CM000682.1:g.43721887G= GRCh37
NC_000020.9:g.43155301G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000537075.3:c.*1624C= MANE Select ENSP00000445595.1:n.*1624C=
ENST00000306117.5:c.*1624C= ENSP00000307694.1:n.*1624C=
NM_002251.3:c.*1624C= NP_002242.2:n.*1624C=
XM_005260409.3:c.*1624C= XP_005260466.1:n.*1624C=
NM_001322799.1:c.*1624C= NP_001309728.1:n.*1624C=
NM_002251.4:c.*1624C= NP_002242.2:n.*1624C=
XM_017027846.1:c.*1624C= XP_016883335.1:n.*1624C=
NM_001322799.2:c.*1624C= MANE Select NP_001309728.1:n.*1624C=
NM_002251.5:c.*1624C= NP_002242.2:n.*1624C=
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