Canonical Allele Identifier: CA383246034

Gene: KCNJ1

Linked Data

• dbSNP Id: rs1943250978
• gnomAD v4: 11-128839925-T-A
• MyVariant Identifiers: chr11:g.128709820T>A (hg19) ; chr11:g.128839925T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839925T>A , CM000673.2:g.128839925T>A	GRCh38
NC_000011.9:g.128709820T>A , CM000673.1:g.128709820T>A	GRCh37
NC_000011.8:g.128215030T>A	NCBI36
NG_009379.1:g.32449A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.319A>T MANE Select	ENSP00000376434.1:p.Asn107Tyr
ENST00000324003.3:c.319A>T	ENSP00000316136.3:p.Asn107Tyr
ENST00000324036.7:c.319A>T	ENSP00000316233.3:p.Asn107Tyr
ENST00000392664.2:c.376A>T	ENSP00000376432.2:p.Asn126Tyr
ENST00000392665.6:c.319A>T	ENSP00000376433.2:p.Asn107Tyr
ENST00000392666.5:c.319A>T	ENSP00000376434.1:p.Asn107Tyr
ENST00000440599.6:c.319A>T	ENSP00000406320.2:p.Asn107Tyr
NM_000220.4:c.376A>T	NP_000211.1:p.Asn126Tyr
NM_153764.2:c.319A>T	NP_722448.1:p.Asn107Tyr
NM_153765.2:c.370A>T	NP_722449.3:p.Asn124Tyr
NM_153766.2:c.319A>T	NP_722450.1:p.Asn107Tyr
NM_153767.3:c.319A>T	NP_722451.1:p.Asn107Tyr
NM_000220.6:c.376A>T	NP_000211.1:p.Asn126Tyr
NM_153764.3:c.319A>T	NP_722448.1:p.Asn107Tyr
NM_153765.3:c.370A>T	NP_722449.3:p.Asn124Tyr
NM_153766.3:c.319A>T MANE Select	NP_722450.1:p.Asn107Tyr
NM_153767.4:c.319A>T	NP_722451.1:p.Asn107Tyr