Canonical Allele Identifier: CA477703805
Gene: KCNJ5 HGNC NCBI

Linked Data

dbSNP Id: rs2135999349
MyVariant Identifiers: chr11:g.128781819C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128911924C>T , CM000673.2:g.128911924C>T GRCh38
NC_000011.9:g.128781819C>T , CM000673.1:g.128781819C>T GRCh37
NC_000011.8:g.128287029C>T NCBI36
NG_023406.2:g.25507C>T , LRG_333:g.25507C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000529694.6:c.651C>T MANE Select ENSP00000433295.1:p.Leu217=
ENST00000338350.4:c.651C>T ENSP00000339960.4:p.Leu217=
ENST00000529694.5:c.651C>T ENSP00000433295.1:p.Leu217=
ENST00000533599.1:c.651C>T ENSP00000434266.1:p.Leu217=
NM_000890.3:c.651C>T , LRG_333t1:c.651C>T NP_000881.3:p.Leu217=
XM_011542809.1:c.651C>T XP_011541111.1:p.Leu217=
XM_011542810.1:c.651C>T XP_011541112.1:p.Leu217=
NM_000890.4:c.651C>T NP_000881.3:p.Leu217=
NM_001354169.1:c.651C>T NP_001341098.1:p.Leu217=
XM_011542809.2:c.651C>T XP_011541111.1:p.Leu217=
XM_011542810.3:c.651C>T XP_011541112.1:p.Leu217=
NM_000890.5:c.651C>T MANE Select NP_000881.3:p.Leu217=
NM_001354169.2:c.651C>T NP_001341098.1:p.Leu217=