Canonical Allele Identifier: CA379770011

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 847800
• ClinVar RCV Id: RCV001051419 ; RCV001174375
• dbSNP Id: rs74339576
• MyVariant Identifiers: chr11:g.17408737C>G (hg19) ; chr11:g.17387190C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387190C>G , CM000673.2:g.17387190C>G	GRCh38
NC_000011.9:g.17408737C>G , CM000673.1:g.17408737C>G	GRCh37
NC_000011.8:g.17365313C>G	NCBI36
NG_012446.1:g.6470G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.641G>C	ENSP00000508090.1:p.Arg214Pro
ENST00000682764.1:c.641G>C	ENSP00000506780.1:p.Arg214Pro
ENST00000339994.5:c.902G>C MANE Select	ENSP00000345708.4:p.Arg301Pro
ENST00000339994.4:c.902G>C	ENSP00000345708.4:p.Arg301Pro
ENST00000528731.1:c.641G>C	ENSP00000434755.1:p.Arg214Pro
NM_000525.3:c.902G>C	NP_000516.3:p.Arg301Pro
NM_001166290.1:c.641G>C	NP_001159762.1:p.Arg214Pro
XM_006718226.2:c.641G>C	XP_006718289.1:p.Arg214Pro
XR_930867.1:n.1060G>C
XM_006718226.3:c.641G>C	XP_006718289.1:p.Arg214Pro
XM_017017680.1:c.641G>C	XP_016873169.1:p.Arg214Pro
NM_001166290.2:c.641G>C	NP_001159762.1:p.Arg214Pro
NM_001377296.1:c.641G>C	NP_001364225.1:p.Arg214Pro
NM_001377297.1:c.641G>C	NP_001364226.1:p.Arg214Pro
NM_000525.4:c.902G>C MANE Select	NP_000516.3:p.Arg301Pro