Canonical Allele Identifier: CA315503476
Gene: KCNS1 HGNC NCBI

Linked Data

dbSNP Id: rs760027521
gnomAD v2: 20-43721531-A-G
gnomAD v3: 20-45092890-A-G
gnomAD v4: 20-45092890-A-G
MyVariant Identifiers: chr20:g.43721531A>G (hg19) chr20:g.45092890A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45092890A>G , CM000682.2:g.45092890A>G GRCh38
NC_000020.10:g.43721531A>G , CM000682.1:g.43721531A>G GRCh37
NC_000020.9:g.43154945A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000537075.3:c.*1980T>C MANE Select ENSP00000445595.1:n.*1980T>C
ENST00000306117.5:c.*1980T>C ENSP00000307694.1:n.*1980T>C
NM_002251.3:c.*1980T>C NP_002242.2:n.*1980T>C
XM_005260409.3:c.*1980T>C XP_005260466.1:n.*1980T>C
NM_001322799.1:c.*1980T>C NP_001309728.1:n.*1980T>C
NM_002251.4:c.*1980T>C NP_002242.2:n.*1980T>C
XM_017027846.1:c.*1980T>C XP_016883335.1:n.*1980T>C
NM_001322799.2:c.*1980T>C MANE Select NP_001309728.1:n.*1980T>C
NM_002251.5:c.*1980T>C NP_002242.2:n.*1980T>C
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