Canonical Allele Identifier: CA230599952

Gene: KCNJ1

Linked Data

• dbSNP Id: rs986233186
• gnomAD v3: 11-128865509-C-A
• gnomAD v4: 11-128865509-C-A
• MyVariant Identifiers: chr11:g.128735404C>A (hg19) ; chr11:g.128865509C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128865509C>A , CM000673.2:g.128865509C>A	GRCh38
NC_000011.9:g.128735404C>A , CM000673.1:g.128735404C>A	GRCh37
NC_000011.8:g.128240614C>A	NCBI36
NG_009379.1:g.6865G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.-192+1664G>T MANE Select	ENSP00000376434.1:n.-192+1664G>T
ENST00000324003.3:c.-192+1664G>T	ENSP00000316136.3:n.-192+1664G>T
ENST00000324036.7:c.-192+1014G>T	ENSP00000316233.3:n.-192+1014G>T
ENST00000392665.6:c.-22+1664G>T	ENSP00000376433.2:n.-22+1664G>T
ENST00000392666.5:c.-192+1664G>T	ENSP00000376434.1:n.-192+1664G>T
ENST00000440599.6:c.-22+1014G>T	ENSP00000406320.2:n.-22+1014G>T
ENST00000531562.1:n.124+1664G>T
NM_153764.2:c.-22+1664G>T	NP_722448.1:n.-22+1664G>T
NM_153765.2:c.30+1014G>T	NP_722449.3:n.30+1014G>T
NM_153766.2:c.-192+1664G>T	NP_722450.1:n.-192+1664G>T
NM_153767.3:c.-192+1014G>T	NP_722451.1:n.-192+1014G>T
XR_001748442.1:n.3533-1241C>A
NM_153764.3:c.-22+1664G>T	NP_722448.1:n.-22+1664G>T
NM_153765.3:c.30+1014G>T	NP_722449.3:n.30+1014G>T
NM_153766.3:c.-192+1664G>T MANE Select	NP_722450.1:n.-192+1664G>T
NM_153767.4:c.-192+1014G>T	NP_722451.1:n.-192+1014G>T