Canonical Allele Identifier: CA379769709

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 1338354
• ClinVar RCV Id: RCV001817725
• dbSNP Id: rs2133379125
• MyVariant Identifiers: chr11:g.17408695A>G (hg19) ; chr11:g.17387148A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387148A>G , CM000673.2:g.17387148A>G	GRCh38
NC_000011.9:g.17408695A>G , CM000673.1:g.17408695A>G	GRCh37
NC_000011.8:g.17365271A>G	NCBI36
NG_012446.1:g.6512T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.683T>C	ENSP00000508090.1:p.Phe228Ser
ENST00000682764.1:c.683T>C	ENSP00000506780.1:p.Phe228Ser
ENST00000339994.5:c.944T>C MANE Select	ENSP00000345708.4:p.Phe315Ser
ENST00000339994.4:c.944T>C	ENSP00000345708.4:p.Phe315Ser
ENST00000528731.1:c.683T>C	ENSP00000434755.1:p.Phe228Ser
NM_000525.3:c.944T>C	NP_000516.3:p.Phe315Ser
NM_001166290.1:c.683T>C	NP_001159762.1:p.Phe228Ser
XM_006718226.2:c.683T>C	XP_006718289.1:p.Phe228Ser
XR_930867.1:n.1102T>C
XM_006718226.3:c.683T>C	XP_006718289.1:p.Phe228Ser
XM_017017680.1:c.683T>C	XP_016873169.1:p.Phe228Ser
NM_001166290.2:c.683T>C	NP_001159762.1:p.Phe228Ser
NM_001377296.1:c.683T>C	NP_001364225.1:p.Phe228Ser
NM_001377297.1:c.683T>C	NP_001364226.1:p.Phe228Ser
NM_000525.4:c.944T>C MANE Select	NP_000516.3:p.Phe315Ser