Canonical Allele Identifier: CA477703319
Gene: KCNJ1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.128709602T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839707T>G , CM000673.2:g.128839707T>G GRCh38
NC_000011.9:g.128709602T>G , CM000673.1:g.128709602T>G GRCh37
NC_000011.8:g.128214812T>G NCBI36
NG_009379.1:g.32667A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.537A>C MANE Select ENSP00000376434.1:p.Ala179=
ENST00000324036.7:c.537A>C ENSP00000316233.3:p.Ala179=
ENST00000392664.2:c.594A>C ENSP00000376432.2:p.Ala198=
ENST00000392665.6:c.537A>C ENSP00000376433.2:p.Ala179=
ENST00000392666.5:c.537A>C ENSP00000376434.1:p.Ala179=
ENST00000440599.6:c.537A>C ENSP00000406320.2:p.Ala179=
NM_000220.4:c.594A>C NP_000211.1:p.Ala198=
NM_153764.2:c.537A>C NP_722448.1:p.Ala179=
NM_153765.2:c.588A>C NP_722449.3:p.Ala196=
NM_153766.2:c.537A>C NP_722450.1:p.Ala179=
NM_153767.3:c.537A>C NP_722451.1:p.Ala179=
NM_000220.6:c.594A>C NP_000211.1:p.Ala198=
NM_153764.3:c.537A>C NP_722448.1:p.Ala179=
NM_153765.3:c.588A>C NP_722449.3:p.Ala196=
NM_153766.3:c.537A>C MANE Select NP_722450.1:p.Ala179=
NM_153767.4:c.537A>C NP_722451.1:p.Ala179=