Canonical Allele Identifier: CA2580618840
Gene: KCNS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45092852C>G , CM000682.2:g.45092852C>G GRCh38
NC_000020.10:g.43721493C>G , CM000682.1:g.43721493C>G GRCh37
NC_000020.9:g.43154907C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000537075.3:c.*2018G>C MANE Select ENSP00000445595.1:n.*2018G>C
ENST00000306117.5:c.*2018G>C ENSP00000307694.1:n.*2018G>C
NM_002251.3:c.*2018G>C NP_002242.2:n.*2018G>C
XM_005260409.3:c.*2018G>C XP_005260466.1:n.*2018G>C
NM_001322799.1:c.*2018G>C NP_001309728.1:n.*2018G>C
NM_002251.4:c.*2018G>C NP_002242.2:n.*2018G>C
XM_017027846.1:c.*2018G>C XP_016883335.1:n.*2018G>C
NM_001322799.2:c.*2018G>C MANE Select NP_001309728.1:n.*2018G>C
NM_002251.5:c.*2018G>C NP_002242.2:n.*2018G>C
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