Canonical Allele Identifier: CA379775108

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 1338364
• ClinVar RCV Id: RCV001817735
• dbSNP Id: rs2133380675
• gnomAD v4: 11-17387844-C-G
• MyVariant Identifiers: chr11:g.17409391C>G (hg19) ; chr11:g.17387844C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387844C>G , CM000673.2:g.17387844C>G	GRCh38
NC_000011.9:g.17409391C>G , CM000673.1:g.17409391C>G	GRCh37
NC_000011.8:g.17365967C>G	NCBI36
NG_012446.1:g.5816G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000528992.2:c.20G>C	ENSP00000436479.2:p.Trp7Ser
ENST00000682350.1:c.-14G>C	ENSP00000508090.1:n.-14G>C
ENST00000682764.1:c.-14G>C	ENSP00000506780.1:n.-14G>C
ENST00000339994.5:c.248G>C MANE Select	ENSP00000345708.4:p.Trp83Ser
ENST00000339994.4:c.248G>C	ENSP00000345708.4:p.Trp83Ser
ENST00000526912.1:c.-14G>C	ENSP00000432729.1:n.-14G>C
ENST00000528731.1:c.-14G>C	ENSP00000434755.1:n.-14G>C
ENST00000528992.1:c.265G>C
NM_000525.3:c.248G>C	NP_000516.3:p.Trp83Ser
NM_001166290.1:c.-14G>C	NP_001159762.1:n.-14G>C
XM_006718226.2:c.-14G>C	XP_006718289.1:n.-14G>C
XR_930867.1:n.406G>C
XM_006718226.3:c.-14G>C	XP_006718289.1:n.-14G>C
XM_017017680.1:c.-14G>C	XP_016873169.1:n.-14G>C
NM_001166290.2:c.-14G>C	NP_001159762.1:n.-14G>C
NM_001377296.1:c.-14G>C	NP_001364225.1:n.-14G>C
NM_001377297.1:c.-14G>C	NP_001364226.1:n.-14G>C
NM_000525.4:c.248G>C MANE Select	NP_000516.3:p.Trp83Ser