Canonical Allele Identifier: CA477703387
Gene: KCNJ1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.128709659T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839764T>C , CM000673.2:g.128839764T>C GRCh38
NC_000011.9:g.128709659T>C , CM000673.1:g.128709659T>C GRCh37
NC_000011.8:g.128214869T>C NCBI36
NG_009379.1:g.32610A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.480A>G MANE Select ENSP00000376434.1:p.Leu160=
ENST00000324036.7:c.480A>G ENSP00000316233.3:p.Leu160=
ENST00000392664.2:c.537A>G ENSP00000376432.2:p.Leu179=
ENST00000392665.6:c.480A>G ENSP00000376433.2:p.Leu160=
ENST00000392666.5:c.480A>G ENSP00000376434.1:p.Leu160=
ENST00000440599.6:c.480A>G ENSP00000406320.2:p.Leu160=
NM_000220.4:c.537A>G NP_000211.1:p.Leu179=
NM_153764.2:c.480A>G NP_722448.1:p.Leu160=
NM_153765.2:c.531A>G NP_722449.3:p.Leu177=
NM_153766.2:c.480A>G NP_722450.1:p.Leu160=
NM_153767.3:c.480A>G NP_722451.1:p.Leu160=
NM_000220.6:c.537A>G NP_000211.1:p.Leu179=
NM_153764.3:c.480A>G NP_722448.1:p.Leu160=
NM_153765.3:c.531A>G NP_722449.3:p.Leu177=
NM_153766.3:c.480A>G MANE Select NP_722450.1:p.Leu160=
NM_153767.4:c.480A>G NP_722451.1:p.Leu160=