Canonical Allele Identifier: CA2653024184
Gene: KCNS1 HGNC NCBI

Linked Data

gnomAD v4: 20-45092861-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45092861T>C , CM000682.2:g.45092861T>C GRCh38
NC_000020.10:g.43721502T>C , CM000682.1:g.43721502T>C GRCh37
NC_000020.9:g.43154916T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000537075.3:c.*2009A>G MANE Select ENSP00000445595.1:n.*2009A>G
ENST00000306117.5:c.*2009A>G ENSP00000307694.1:n.*2009A>G
NM_002251.3:c.*2009A>G NP_002242.2:n.*2009A>G
XM_005260409.3:c.*2009A>G XP_005260466.1:n.*2009A>G
NM_001322799.1:c.*2009A>G NP_001309728.1:n.*2009A>G
NM_002251.4:c.*2009A>G NP_002242.2:n.*2009A>G
XM_017027846.1:c.*2009A>G XP_016883335.1:n.*2009A>G
NM_001322799.2:c.*2009A>G MANE Select NP_001309728.1:n.*2009A>G
NM_002251.5:c.*2009A>G NP_002242.2:n.*2009A>G
Search 100 bp 5'
Search 100 bp 3'