Canonical Allele Identifier: CA230627528

Gene: KCNJ1

Linked Data

• dbSNP Id: rs962284139
• gnomAD v4: 11-128839144-G-A
• COSMIC: COSM1977513
• MyVariant Identifiers: chr11:g.128709039G>A (hg19) ; chr11:g.128839144G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839144G>A , CM000673.2:g.128839144G>A	GRCh38
NC_000011.9:g.128709039G>A , CM000673.1:g.128709039G>A	GRCh37
NC_000011.8:g.128214249G>A	NCBI36
NG_009379.1:g.33230C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000392666.6:c.1100C>T MANE Select	ENSP00000376434.1:p.Thr367Ile
ENST00000324036.7:c.1100C>T	ENSP00000316233.3:p.Thr367Ile
ENST00000392664.2:c.1157C>T	ENSP00000376432.2:p.Thr386Ile
ENST00000392665.6:c.1100C>T	ENSP00000376433.2:p.Thr367Ile
ENST00000392666.5:c.1100C>T	ENSP00000376434.1:p.Thr367Ile
ENST00000440599.6:c.1100C>T	ENSP00000406320.2:p.Thr367Ile
NM_000220.4:c.1157C>T	NP_000211.1:p.Thr386Ile
NM_153764.2:c.1100C>T	NP_722448.1:p.Thr367Ile
NM_153765.2:c.1151C>T	NP_722449.3:p.Thr384Ile
NM_153766.2:c.1100C>T	NP_722450.1:p.Thr367Ile
NM_153767.3:c.1100C>T	NP_722451.1:p.Thr367Ile
NM_000220.6:c.1157C>T	NP_000211.1:p.Thr386Ile
NM_153764.3:c.1100C>T	NP_722448.1:p.Thr367Ile
NM_153765.3:c.1151C>T	NP_722449.3:p.Thr384Ile
NM_153766.3:c.1100C>T MANE Select	NP_722450.1:p.Thr367Ile
NM_153767.4:c.1100C>T	NP_722451.1:p.Thr367Ile