Canonical Allele Identifier: CA230628532
Gene: KCNJ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.128839709C>A
GRCh37 chr11:g.128709604C>A
Revel Score:
ENST00000392665 0.875
ENST00000392666 (MANE Select) 0.875
ENST00000440599 0.875
ENST00000324036 0.875
ENST00000392664 0.875
gnomAD v2:
11:128709604 C / A
gnomAD v4:
chr11-128839709-C-A
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839709C>A , CM000673.2:g.128839709C>A GRCh38
NC_000011.9:g.128709604C>A , CM000673.1:g.128709604C>A GRCh37
NC_000011.8:g.128214814C>A NCBI36
NG_009379.1:g.32665G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.535G>T MANE Select ENSP00000376434.1:p.Ala179Ser
ENST00000324036.7:c.535G>T ENSP00000316233.3:p.Ala179Ser
ENST00000392664.2:c.592G>T ENSP00000376432.2:p.Ala198Ser
ENST00000392665.6:c.535G>T ENSP00000376433.2:p.Ala179Ser
ENST00000392666.5:c.535G>T ENSP00000376434.1:p.Ala179Ser
ENST00000440599.6:c.535G>T ENSP00000406320.2:p.Ala179Ser
NM_000220.4:c.592G>T NP_000211.1:p.Ala198Ser
NM_153764.2:c.535G>T NP_722448.1:p.Ala179Ser
NM_153765.2:c.586G>T NP_722449.3:p.Ala196Ser
NM_153766.2:c.535G>T NP_722450.1:p.Ala179Ser
NM_153767.3:c.535G>T NP_722451.1:p.Ala179Ser
NM_000220.6:c.592G>T NP_000211.1:p.Ala198Ser
NM_153764.3:c.535G>T NP_722448.1:p.Ala179Ser
NM_153765.3:c.586G>T NP_722449.3:p.Ala196Ser
NM_153766.3:c.535G>T MANE Select NP_722450.1:p.Ala179Ser
NM_153767.4:c.535G>T NP_722451.1:p.Ala179Ser
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