Canonical Allele Identifier: CA5902198

Gene: KCNJ11

Linked Data

• dbSNP Id: rs114215135
• ExAC: 11:17408605 G / T
• gnomAD v2: 11-17408605-G-T
• gnomAD v4: 11-17387058-G-T
• MyVariant Identifiers: chr11:g.17408605G>T (hg19) ; chr11:g.17387058G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387058G>T , CM000673.2:g.17387058G>T	GRCh38
NC_000011.9:g.17408605G>T , CM000673.1:g.17408605G>T	GRCh37
NC_000011.8:g.17365181G>T	NCBI36
NG_012446.1:g.6602C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.773C>A	ENSP00000508090.1:p.Thr258Lys
ENST00000682764.1:c.773C>A	ENSP00000506780.1:p.Thr258Lys
ENST00000339994.5:c.1034C>A MANE Select	ENSP00000345708.4:p.Thr345Lys
ENST00000339994.4:c.1034C>A	ENSP00000345708.4:p.Thr345Lys
ENST00000528731.1:c.773C>A	ENSP00000434755.1:p.Thr258Lys
NM_000525.3:c.1034C>A	NP_000516.3:p.Thr345Lys
NM_001166290.1:c.773C>A	NP_001159762.1:p.Thr258Lys
XM_006718226.2:c.773C>A	XP_006718289.1:p.Thr258Lys
XR_930867.1:n.1192C>A
XM_006718226.3:c.773C>A	XP_006718289.1:p.Thr258Lys
XM_017017680.1:c.773C>A	XP_016873169.1:p.Thr258Lys
NM_001166290.2:c.773C>A	NP_001159762.1:p.Thr258Lys
NM_001377296.1:c.773C>A	NP_001364225.1:p.Thr258Lys
NM_001377297.1:c.773C>A	NP_001364226.1:p.Thr258Lys
NM_000525.4:c.1034C>A MANE Select	NP_000516.3:p.Thr345Lys