Canonical Allele Identifier: CA379769410

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 2504984
• ClinVar RCV Id: RCV003233164
• dbSNP Id: rs1324969572
• MyVariant Identifiers: chr11:g.17408620G>T (hg19) ; chr11:g.17387073G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387073G>T , CM000673.2:g.17387073G>T	GRCh38
NC_000011.9:g.17408620G>T , CM000673.1:g.17408620G>T	GRCh37
NC_000011.8:g.17365196G>T	NCBI36
NG_012446.1:g.6587C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.758C>A	ENSP00000508090.1:p.Pro253His
ENST00000682764.1:c.758C>A	ENSP00000506780.1:p.Pro253His
ENST00000339994.5:c.1019C>A MANE Select	ENSP00000345708.4:p.Pro340His
ENST00000339994.4:c.1019C>A	ENSP00000345708.4:p.Pro340His
ENST00000528731.1:c.758C>A	ENSP00000434755.1:p.Pro253His
NM_000525.3:c.1019C>A	NP_000516.3:p.Pro340His
NM_001166290.1:c.758C>A	NP_001159762.1:p.Pro253His
XM_006718226.2:c.758C>A	XP_006718289.1:p.Pro253His
XR_930867.1:n.1177C>A
XM_006718226.3:c.758C>A	XP_006718289.1:p.Pro253His
XM_017017680.1:c.758C>A	XP_016873169.1:p.Pro253His
NM_001166290.2:c.758C>A	NP_001159762.1:p.Pro253His
NM_001377296.1:c.758C>A	NP_001364225.1:p.Pro253His
NM_001377297.1:c.758C>A	NP_001364226.1:p.Pro253His
NM_000525.4:c.1019C>A MANE Select	NP_000516.3:p.Pro340His