Canonical Allele Identifier: CA658683780

Gene: KCNJ8

Linked Data

• ClinVar Variation Id: 493112
• ClinVar RCV Id: RCV000585574
• dbSNP Id: rs1555172010
• MyVariant Identifiers: chr12:g.21919549_21919550insA (hg19) ; chr12:g.21766615_21766616insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21766615_21766616insA , CM000674.2:g.21766615_21766616insA	GRCh38
NC_000012.11:g.21919549_21919550insA , CM000674.1:g.21919549_21919550insA	GRCh37
NC_000012.10:g.21810816_21810817insA	NCBI36
NG_041794.1:g.13206_13207insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240662.3:c.382_383insT MANE Select	ENSP00000240662.2:p.Thr128IlefsTer9
ENST00000657855.1:n.528_529insT
ENST00000665145.1:c.382_383insT	ENSP00000499300.1:p.Thr128IlefsTer9
ENST00000667884.1:c.382_383insT	ENSP00000499462.1:p.Thr128IlefsTer9
ENST00000240662.2:c.382_383insT	ENSP00000240662.2:p.Thr128IlefsTer9
NM_004982.3:c.382_383insT	NP_004973.1:p.Thr128IlefsTer9
XM_005253358.3:c.382_383insT	XP_005253415.1:p.Thr128IlefsTer9
XR_931420.1:n.631+6530_631+6531insA
XR_931421.1:n.631+6530_631+6531insA
XR_931422.1:n.305+6530_305+6531insA
XM_005253358.5:c.382_383insT	XP_005253415.1:p.Thr128IlefsTer9
XM_017019283.2:c.382_383insT	XP_016874772.1:p.Thr128IlefsTer9
XM_017019284.2:c.382_383insT	XP_016874773.1:p.Thr128IlefsTer9
XR_931420.3:n.631+6530_631+6531insA
XR_931422.2:n.317+6530_317+6531insA
NM_004982.4:c.382_383insT MANE Select	NP_004973.1:p.Thr128IlefsTer9