Canonical Allele Identifier: CA473515471

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 992030
• ClinVar RCV Id: RCV001280340
• dbSNP Id: rs1953583830
• gnomAD v4: 11-17387534-A-G
• MyVariant Identifiers: chr11:g.17409081A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387534A>G , CM000673.2:g.17387534A>G	GRCh38
NC_000011.9:g.17409081A>G , CM000673.1:g.17409081A>G	GRCh37
NC_000011.8:g.17365657A>G	NCBI36
NG_012446.1:g.6126T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.297T>C	ENSP00000508090.1:p.His99=
ENST00000682764.1:c.297T>C	ENSP00000506780.1:p.His99=
ENST00000339994.5:c.558T>C MANE Select	ENSP00000345708.4:p.His186=
ENST00000339994.4:c.558T>C	ENSP00000345708.4:p.His186=
ENST00000526912.1:c.297T>C	ENSP00000432729.1:p.His99=
ENST00000528731.1:c.297T>C	ENSP00000434755.1:p.His99=
NM_000525.3:c.558T>C	NP_000516.3:p.His186=
NM_001166290.1:c.297T>C	NP_001159762.1:p.His99=
XM_006718226.2:c.297T>C	XP_006718289.1:p.His99=
XR_930867.1:n.716T>C
XM_006718226.3:c.297T>C	XP_006718289.1:p.His99=
XM_017017680.1:c.297T>C	XP_016873169.1:p.His99=
NM_001166290.2:c.297T>C	NP_001159762.1:p.His99=
NM_001377296.1:c.297T>C	NP_001364225.1:p.His99=
NM_001377297.1:c.297T>C	NP_001364226.1:p.His99=
NM_000525.4:c.558T>C MANE Select	NP_000516.3:p.His186=