Canonical Allele Identifier: CA2653024145
Gene: KCNS1 HGNC NCBI

Linked Data

gnomAD v4: 20-45092762-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45092762G>T , CM000682.2:g.45092762G>T GRCh38
NC_000020.10:g.43721403G>T , CM000682.1:g.43721403G>T GRCh37
NC_000020.9:g.43154817G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000537075.3:c.*2108C>A MANE Select ENSP00000445595.1:n.*2108C>A
ENST00000306117.5:c.*2108C>A ENSP00000307694.1:n.*2108C>A
NM_002251.3:c.*2108C>A NP_002242.2:n.*2108C>A
XM_005260409.3:c.*2108C>A XP_005260466.1:n.*2108C>A
NM_001322799.1:c.*2108C>A NP_001309728.1:n.*2108C>A
NM_002251.4:c.*2108C>A NP_002242.2:n.*2108C>A
XM_017027846.1:c.*2108C>A XP_016883335.1:n.*2108C>A
NM_001322799.2:c.*2108C>A MANE Select NP_001309728.1:n.*2108C>A
NM_002251.5:c.*2108C>A NP_002242.2:n.*2108C>A
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