Canonical Allele Identifier: CA5902199

Gene: KCNJ11

Linked Data

• dbSNP Id: rs762355661
• ExAC: 11:17408608 C / A
• gnomAD v2: 11-17408608-C-A
• gnomAD v4: 11-17387061-C-A
• MyVariant Identifiers: chr11:g.17408608C>A (hg19) ; chr11:g.17387061C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387061C>A , CM000673.2:g.17387061C>A	GRCh38
NC_000011.9:g.17408608C>A , CM000673.1:g.17408608C>A	GRCh37
NC_000011.8:g.17365184C>A	NCBI36
NG_012446.1:g.6599G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.770G>T	ENSP00000508090.1:p.Cys257Phe
ENST00000682764.1:c.770G>T	ENSP00000506780.1:p.Cys257Phe
ENST00000339994.5:c.1031G>T MANE Select	ENSP00000345708.4:p.Cys344Phe
ENST00000339994.4:c.1031G>T	ENSP00000345708.4:p.Cys344Phe
ENST00000528731.1:c.770G>T	ENSP00000434755.1:p.Cys257Phe
NM_000525.3:c.1031G>T	NP_000516.3:p.Cys344Phe
NM_001166290.1:c.770G>T	NP_001159762.1:p.Cys257Phe
XM_006718226.2:c.770G>T	XP_006718289.1:p.Cys257Phe
XR_930867.1:n.1189G>T
XM_006718226.3:c.770G>T	XP_006718289.1:p.Cys257Phe
XM_017017680.1:c.770G>T	XP_016873169.1:p.Cys257Phe
NM_001166290.2:c.770G>T	NP_001159762.1:p.Cys257Phe
NM_001377296.1:c.770G>T	NP_001364225.1:p.Cys257Phe
NM_001377297.1:c.770G>T	NP_001364226.1:p.Cys257Phe
NM_000525.4:c.1031G>T MANE Select	NP_000516.3:p.Cys344Phe