Canonical Allele Identifier: CA218399831

Gene: KCNJ11

Linked Data

• dbSNP Id: rs77131926
• MyVariant Identifiers: chr11:g.17409071C>G (hg19) ; chr11:g.17387524C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387524C>G , CM000673.2:g.17387524C>G	GRCh38
NC_000011.9:g.17409071C>G , CM000673.1:g.17409071C>G	GRCh37
NC_000011.8:g.17365647C>G	NCBI36
NG_012446.1:g.6136G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.307G>C	ENSP00000508090.1:p.Ala103Pro
ENST00000682764.1:c.307G>C	ENSP00000506780.1:p.Ala103Pro
ENST00000339994.5:c.568G>C MANE Select	ENSP00000345708.4:p.Ala190Pro
ENST00000339994.4:c.568G>C	ENSP00000345708.4:p.Ala190Pro
ENST00000526912.1:c.307G>C	ENSP00000432729.1:p.Ala103Pro
ENST00000528731.1:c.307G>C	ENSP00000434755.1:p.Ala103Pro
NM_000525.3:c.568G>C	NP_000516.3:p.Ala190Pro
NM_001166290.1:c.307G>C	NP_001159762.1:p.Ala103Pro
XM_006718226.2:c.307G>C	XP_006718289.1:p.Ala103Pro
XR_930867.1:n.726G>C
XM_006718226.3:c.307G>C	XP_006718289.1:p.Ala103Pro
XM_017017680.1:c.307G>C	XP_016873169.1:p.Ala103Pro
NM_001166290.2:c.307G>C	NP_001159762.1:p.Ala103Pro
NM_001377296.1:c.307G>C	NP_001364225.1:p.Ala103Pro
NM_001377297.1:c.307G>C	NP_001364226.1:p.Ala103Pro
NM_000525.4:c.568G>C MANE Select	NP_000516.3:p.Ala190Pro