Canonical Allele Identifier: CA379770021

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 1501753
• ClinVar RCV Id: RCV002019901
• dbSNP Id: rs377091338
• gnomAD v3: 11-17387191-G-C
• gnomAD v4: 11-17387191-G-C
• MyVariant Identifiers: chr11:g.17408738G>C (hg19) ; chr11:g.17387191G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387191G>C , CM000673.2:g.17387191G>C	GRCh38
NC_000011.9:g.17408738G>C , CM000673.1:g.17408738G>C	GRCh37
NC_000011.8:g.17365314G>C	NCBI36
NG_012446.1:g.6469C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.640C>G	ENSP00000508090.1:p.Arg214Gly
ENST00000682764.1:c.640C>G	ENSP00000506780.1:p.Arg214Gly
ENST00000339994.5:c.901C>G MANE Select	ENSP00000345708.4:p.Arg301Gly
ENST00000339994.4:c.901C>G	ENSP00000345708.4:p.Arg301Gly
ENST00000528731.1:c.640C>G	ENSP00000434755.1:p.Arg214Gly
NM_000525.3:c.901C>G	NP_000516.3:p.Arg301Gly
NM_001166290.1:c.640C>G	NP_001159762.1:p.Arg214Gly
XM_006718226.2:c.640C>G	XP_006718289.1:p.Arg214Gly
XR_930867.1:n.1059C>G
XM_006718226.3:c.640C>G	XP_006718289.1:p.Arg214Gly
XM_017017680.1:c.640C>G	XP_016873169.1:p.Arg214Gly
NM_001166290.2:c.640C>G	NP_001159762.1:p.Arg214Gly
NM_001377296.1:c.640C>G	NP_001364225.1:p.Arg214Gly
NM_001377297.1:c.640C>G	NP_001364226.1:p.Arg214Gly
NM_000525.4:c.901C>G MANE Select	NP_000516.3:p.Arg301Gly