Canonical Allele Identifier: CA473515623
Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2897494
ClinVar RCV Id: RCV003733511
MyVariant Identifiers: chr11:g.17408946C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387399C>T , CM000673.2:g.17387399C>T GRCh38
NC_000011.9:g.17408946C>T , CM000673.1:g.17408946C>T GRCh37
NC_000011.8:g.17365522C>T NCBI36
NG_012446.1:g.6261G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682350.1:c.432G>A ENSP00000508090.1:p.Val144=
ENST00000682764.1:c.432G>A ENSP00000506780.1:p.Val144=
ENST00000339994.5:c.693G>A MANE Select ENSP00000345708.4:p.Val231=
ENST00000339994.4:c.693G>A ENSP00000345708.4:p.Val231=
ENST00000526912.1:c.432G>A ENSP00000432729.1:p.Val144=
ENST00000528731.1:c.432G>A ENSP00000434755.1:p.Val144=
NM_000525.3:c.693G>A NP_000516.3:p.Val231=
NM_001166290.1:c.432G>A NP_001159762.1:p.Val144=
XM_006718226.2:c.432G>A XP_006718289.1:p.Val144=
XR_930867.1:n.851G>A
XM_006718226.3:c.432G>A XP_006718289.1:p.Val144=
XM_017017680.1:c.432G>A XP_016873169.1:p.Val144=
NM_001166290.2:c.432G>A NP_001159762.1:p.Val144=
NM_001377296.1:c.432G>A NP_001364225.1:p.Val144=
NM_001377297.1:c.432G>A NP_001364226.1:p.Val144=
NM_000525.4:c.693G>A MANE Select NP_000516.3:p.Val231=