Canonical Allele Identifier: CA635996443

Gene: KCNS1

Linked Data

• dbSNP Id: rs4499491
• gnomAD v2: 20-43721419-C-G
• gnomAD v3: 20-45092778-C-G
• gnomAD v4: 20-45092778-C-G
• MyVariant Identifiers: chr20:g.43721419C>G (hg19) ; chr20:g.45092778C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45092778C>G , CM000682.2:g.45092778C>G	GRCh38
NC_000020.10:g.43721419C>G , CM000682.1:g.43721419C>G	GRCh37
NC_000020.9:g.43154833C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000537075.3:c.*2092G>C MANE Select	ENSP00000445595.1:n.*2092G>C
ENST00000306117.5:c.*2092G>C	ENSP00000307694.1:n.*2092G>C
NM_002251.3:c.*2092G>C	NP_002242.2:n.*2092G>C
XM_005260409.3:c.*2092G>C	XP_005260466.1:n.*2092G>C
NM_001322799.1:c.*2092G>C	NP_001309728.1:n.*2092G>C
NM_002251.4:c.*2092G>C	NP_002242.2:n.*2092G>C
XM_017027846.1:c.*2092G>C	XP_016883335.1:n.*2092G>C
NM_001322799.2:c.*2092G>C MANE Select	NP_001309728.1:n.*2092G>C
NM_002251.5:c.*2092G>C	NP_002242.2:n.*2092G>C