Canonical Allele Identifier: CA2366061634
Gene: KCNS1 HGNC NCBI

Linked Data

dbSNP Id: rs1981055275
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45093123C>T , CM000682.2:g.45093123C>T GRCh38
NC_000020.10:g.43721764C>T , CM000682.1:g.43721764C>T GRCh37
NC_000020.9:g.43155178C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000537075.3:c.*1747G>A MANE Select ENSP00000445595.1:n.*1747G>A
ENST00000306117.5:c.*1747G>A ENSP00000307694.1:n.*1747G>A
NM_002251.3:c.*1747G>A NP_002242.2:n.*1747G>A
XM_005260409.3:c.*1747G>A XP_005260466.1:n.*1747G>A
NM_001322799.1:c.*1747G>A NP_001309728.1:n.*1747G>A
NM_002251.4:c.*1747G>A NP_002242.2:n.*1747G>A
XM_017027846.1:c.*1747G>A XP_016883335.1:n.*1747G>A
NM_001322799.2:c.*1747G>A MANE Select NP_001309728.1:n.*1747G>A
NM_002251.5:c.*1747G>A NP_002242.2:n.*1747G>A
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