Canonical Allele Identifier: CA120156

Gene: KCNJ1

Linked Data

• ClinVar Variation Id: 9158
• ClinVar RCV Id: RCV000009728 ; RCV000202885 ; RCV000224891 ; RCV003914824
• dbSNP Id: rs59172778
• ExAC: 11:128709126 A / G
• gnomAD v2: 11-128709126-A-G
• gnomAD v3: 11-128839231-A-G
• gnomAD v4: 11-128839231-A-G
• MyVariant Identifiers: chr11:g.128709126A>G (hg19) ; chr11:g.128839231A>G (hg38)
• PubMed: PMID:8841184

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839231A>G , CM000673.2:g.128839231A>G	GRCh38
NC_000011.9:g.128709126A>G , CM000673.1:g.128709126A>G	GRCh37
NC_000011.8:g.128214336A>G	NCBI36
NG_009379.1:g.33143T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000392666.6:c.1013T>C MANE Select	ENSP00000376434.1:p.Met338Thr
ENST00000324036.7:c.1013T>C	ENSP00000316233.3:p.Met338Thr
ENST00000392664.2:c.1070T>C	ENSP00000376432.2:p.Met357Thr
ENST00000392665.6:c.1013T>C	ENSP00000376433.2:p.Met338Thr
ENST00000392666.5:c.1013T>C	ENSP00000376434.1:p.Met338Thr
ENST00000440599.6:c.1013T>C	ENSP00000406320.2:p.Met338Thr
NM_000220.4:c.1070T>C	NP_000211.1:p.Met357Thr
NM_153764.2:c.1013T>C	NP_722448.1:p.Met338Thr
NM_153765.2:c.1064T>C	NP_722449.3:p.Met355Thr
NM_153766.2:c.1013T>C	NP_722450.1:p.Met338Thr
NM_153767.3:c.1013T>C	NP_722451.1:p.Met338Thr
NM_000220.6:c.1070T>C	NP_000211.1:p.Met357Thr
NM_153764.3:c.1013T>C	NP_722448.1:p.Met338Thr
NM_153765.3:c.1064T>C	NP_722449.3:p.Met355Thr
NM_153766.3:c.1013T>C MANE Select	NP_722450.1:p.Met338Thr
NM_153767.4:c.1013T>C	NP_722451.1:p.Met338Thr