Canonical Allele Identifier: CA379769715

Gene: KCNJ11

Linked Data

• dbSNP Id: rs1428804059
• gnomAD v2: 11-17408696-A-G
• gnomAD v4: 11-17387149-A-G
• MyVariant Identifiers: chr11:g.17408696A>G (hg19) ; chr11:g.17387149A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387149A>G , CM000673.2:g.17387149A>G	GRCh38
NC_000011.9:g.17408696A>G , CM000673.1:g.17408696A>G	GRCh37
NC_000011.8:g.17365272A>G	NCBI36
NG_012446.1:g.6511T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.682T>C	ENSP00000508090.1:p.Phe228Leu
ENST00000682764.1:c.682T>C	ENSP00000506780.1:p.Phe228Leu
ENST00000339994.5:c.943T>C MANE Select	ENSP00000345708.4:p.Phe315Leu
ENST00000339994.4:c.943T>C	ENSP00000345708.4:p.Phe315Leu
ENST00000528731.1:c.682T>C	ENSP00000434755.1:p.Phe228Leu
NM_000525.3:c.943T>C	NP_000516.3:p.Phe315Leu
NM_001166290.1:c.682T>C	NP_001159762.1:p.Phe228Leu
XM_006718226.2:c.682T>C	XP_006718289.1:p.Phe228Leu
XR_930867.1:n.1101T>C
XM_006718226.3:c.682T>C	XP_006718289.1:p.Phe228Leu
XM_017017680.1:c.682T>C	XP_016873169.1:p.Phe228Leu
NM_001166290.2:c.682T>C	NP_001159762.1:p.Phe228Leu
NM_001377296.1:c.682T>C	NP_001364225.1:p.Phe228Leu
NM_001377297.1:c.682T>C	NP_001364226.1:p.Phe228Leu
NM_000525.4:c.943T>C MANE Select	NP_000516.3:p.Phe315Leu