Canonical Allele Identifier: CA379770990

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 1525999
• ClinVar RCV Id: RCV002052019
• dbSNP Id: rs2133379609
• MyVariant Identifiers: chr11:g.17408885C>A (hg19) ; chr11:g.17387338C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387338C>A , CM000673.2:g.17387338C>A	GRCh38
NC_000011.9:g.17408885C>A , CM000673.1:g.17408885C>A	GRCh37
NC_000011.8:g.17365461C>A	NCBI36
NG_012446.1:g.6322G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.493G>T	ENSP00000508090.1:p.Val165Leu
ENST00000682764.1:c.493G>T	ENSP00000506780.1:p.Val165Leu
ENST00000339994.5:c.754G>T MANE Select	ENSP00000345708.4:p.Val252Leu
ENST00000339994.4:c.754G>T	ENSP00000345708.4:p.Val252Leu
ENST00000528731.1:c.493G>T	ENSP00000434755.1:p.Val165Leu
NM_000525.3:c.754G>T	NP_000516.3:p.Val252Leu
NM_001166290.1:c.493G>T	NP_001159762.1:p.Val165Leu
XM_006718226.2:c.493G>T	XP_006718289.1:p.Val165Leu
XR_930867.1:n.912G>T
XM_006718226.3:c.493G>T	XP_006718289.1:p.Val165Leu
XM_017017680.1:c.493G>T	XP_016873169.1:p.Val165Leu
NM_001166290.2:c.493G>T	NP_001159762.1:p.Val165Leu
NM_001377296.1:c.493G>T	NP_001364225.1:p.Val165Leu
NM_001377297.1:c.493G>T	NP_001364226.1:p.Val165Leu
NM_000525.4:c.754G>T MANE Select	NP_000516.3:p.Val252Leu