Canonical Allele Identifier: CA597904300

Gene: KCNJ11

Linked Data

• dbSNP Id: rs1379750442
• gnomAD v2: 11-17409688-G-C
• gnomAD v3: 11-17388141-G-C
• gnomAD v4: 11-17388141-G-C
• MyVariant Identifiers: chr11:g.17409688G>C (hg19) ; chr11:g.17388141G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17388141G>C , CM000673.2:g.17388141G>C	GRCh38
NC_000011.9:g.17409688G>C , CM000673.1:g.17409688G>C	GRCh37
NC_000011.8:g.17366264G>C	NCBI36
NG_012446.1:g.5519C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000528992.2:c.-213-65C>G	ENSP00000436479.2:n.-213-65C>G
ENST00000682350.1:c.-16-295C>G	ENSP00000508090.1:n.-16-295C>G
ENST00000682764.1:c.-16-295C>G	ENSP00000506780.1:n.-16-295C>G
ENST00000339994.5:c.-50C>G MANE Select	ENSP00000345708.4:n.-50C>G
ENST00000339994.4:c.-50C>G	ENSP00000345708.4:n.-50C>G
ENST00000526912.1:c.-75-65C>G	ENSP00000432729.1:n.-75-65C>G
ENST00000528731.1:c.-16-295C>G	ENSP00000434755.1:n.-16-295C>G
ENST00000528992.1:c.33-65C>G
NM_000525.3:c.-50C>G	NP_000516.3:n.-50C>G
NM_001166290.1:c.-16-295C>G	NP_001159762.1:n.-16-295C>G
XM_006718226.2:c.-16-295C>G	XP_006718289.1:n.-16-295C>G
XR_930867.1:n.109C>G
XM_006718226.3:c.-16-295C>G	XP_006718289.1:n.-16-295C>G
XM_017017680.1:c.-16-295C>G	XP_016873169.1:n.-16-295C>G
NM_001166290.2:c.-16-295C>G	NP_001159762.1:n.-16-295C>G
NM_001377296.1:c.-75-65C>G	NP_001364225.1:n.-75-65C>G
NM_001377297.1:c.-16-295C>G	NP_001364226.1:n.-16-295C>G
NM_000525.4:c.-50C>G MANE Select	NP_000516.3:n.-50C>G