Canonical Allele Identifier: CA379777505

Gene: KCNJ11

Linked Data

• MyVariant Identifiers: chr11:g.17409586G>A (hg19) ; chr11:g.17388039G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17388039G>A , CM000673.2:g.17388039G>A	GRCh38
NC_000011.9:g.17409586G>A , CM000673.1:g.17409586G>A	GRCh37
NC_000011.8:g.17366162G>A	NCBI36
NG_012446.1:g.5621C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000528992.2:c.-176C>T	ENSP00000436479.2:n.-176C>T
ENST00000682350.1:c.-16-193C>T	ENSP00000508090.1:n.-16-193C>T
ENST00000682764.1:c.-16-193C>T	ENSP00000506780.1:n.-16-193C>T
ENST00000339994.5:c.53C>T MANE Select	ENSP00000345708.4:p.Ala18Val
ENST00000339994.4:c.53C>T	ENSP00000345708.4:p.Ala18Val
ENST00000526912.1:c.-38C>T	ENSP00000432729.1:n.-38C>T
ENST00000528731.1:c.-16-193C>T	ENSP00000434755.1:n.-16-193C>T
ENST00000528992.1:c.70C>T
NM_000525.3:c.53C>T	NP_000516.3:p.Ala18Val
NM_001166290.1:c.-16-193C>T	NP_001159762.1:n.-16-193C>T
XM_006718226.2:c.-16-193C>T	XP_006718289.1:n.-16-193C>T
XR_930867.1:n.211C>T
XM_006718226.3:c.-16-193C>T	XP_006718289.1:n.-16-193C>T
XM_017017680.1:c.-16-193C>T	XP_016873169.1:n.-16-193C>T
NM_001166290.2:c.-16-193C>T	NP_001159762.1:n.-16-193C>T
NM_001377296.1:c.-38C>T	NP_001364225.1:n.-38C>T
NM_001377297.1:c.-16-193C>T	NP_001364226.1:n.-16-193C>T
NM_000525.4:c.53C>T MANE Select	NP_000516.3:p.Ala18Val