Canonical Allele Identifier: CA2366061689
Gene: KCNS1 HGNC NCBI

Linked Data

dbSNP Id: rs1981059164
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45093236C>G , CM000682.2:g.45093236C>G GRCh38
NC_000020.10:g.43721877C>G , CM000682.1:g.43721877C>G GRCh37
NC_000020.9:g.43155291C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000537075.3:c.*1634G>C MANE Select ENSP00000445595.1:n.*1634G>C
ENST00000306117.5:c.*1634G>C ENSP00000307694.1:n.*1634G>C
NM_002251.3:c.*1634G>C NP_002242.2:n.*1634G>C
XM_005260409.3:c.*1634G>C XP_005260466.1:n.*1634G>C
NM_001322799.1:c.*1634G>C NP_001309728.1:n.*1634G>C
NM_002251.4:c.*1634G>C NP_002242.2:n.*1634G>C
XM_017027846.1:c.*1634G>C XP_016883335.1:n.*1634G>C
NM_001322799.2:c.*1634G>C MANE Select NP_001309728.1:n.*1634G>C
NM_002251.5:c.*1634G>C NP_002242.2:n.*1634G>C
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