Canonical Allele Identifier: CA2366061508
Gene: KCNS1 HGNC NCBI

Linked Data

dbSNP Id: rs1981042249

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45092864T>A , CM000682.2:g.45092864T>A GRCh38
NC_000020.10:g.43721505T>A , CM000682.1:g.43721505T>A GRCh37
NC_000020.9:g.43154919T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000537075.3:c.*2006A>T MANE Select ENSP00000445595.1:n.*2006A>T
ENST00000306117.5:c.*2006A>T ENSP00000307694.1:n.*2006A>T
NM_002251.3:c.*2006A>T NP_002242.2:n.*2006A>T
XM_005260409.3:c.*2006A>T XP_005260466.1:n.*2006A>T
NM_001322799.1:c.*2006A>T NP_001309728.1:n.*2006A>T
NM_002251.4:c.*2006A>T NP_002242.2:n.*2006A>T
XM_017027846.1:c.*2006A>T XP_016883335.1:n.*2006A>T
NM_001322799.2:c.*2006A>T MANE Select NP_001309728.1:n.*2006A>T
NM_002251.5:c.*2006A>T NP_002242.2:n.*2006A>T