Canonical Allele Identifier: CA473515443

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 1091289
• ClinVar RCV Id: RCV001410714
• dbSNP Id: rs1953577938
• gnomAD v3: 11-17387329-G-A
• gnomAD v4: 11-17387329-G-A
• MyVariant Identifiers: chr11:g.17408876G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387329G>A , CM000673.2:g.17387329G>A	GRCh38
NC_000011.9:g.17408876G>A , CM000673.1:g.17408876G>A	GRCh37
NC_000011.8:g.17365452G>A	NCBI36
NG_012446.1:g.6331C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.502C>T	ENSP00000508090.1:p.Leu168=
ENST00000682764.1:c.502C>T	ENSP00000506780.1:p.Leu168=
ENST00000339994.5:c.763C>T MANE Select	ENSP00000345708.4:p.Leu255=
ENST00000339994.4:c.763C>T	ENSP00000345708.4:p.Leu255=
ENST00000528731.1:c.502C>T	ENSP00000434755.1:p.Leu168=
NM_000525.3:c.763C>T	NP_000516.3:p.Leu255=
NM_001166290.1:c.502C>T	NP_001159762.1:p.Leu168=
XM_006718226.2:c.502C>T	XP_006718289.1:p.Leu168=
XR_930867.1:n.921C>T
XM_006718226.3:c.502C>T	XP_006718289.1:p.Leu168=
XM_017017680.1:c.502C>T	XP_016873169.1:p.Leu168=
NM_001166290.2:c.502C>T	NP_001159762.1:p.Leu168=
NM_001377296.1:c.502C>T	NP_001364225.1:p.Leu168=
NM_001377297.1:c.502C>T	NP_001364226.1:p.Leu168=
NM_000525.4:c.763C>T MANE Select	NP_000516.3:p.Leu255=