Canonical Allele Identifier: CA6357616

Gene: KCNJ1

Linked Data

• ClinVar Variation Id: 447631
• ClinVar RCV Id: RCV000516495 ; RCV000923639 ; RCV001102693
• dbSNP Id: rs147611594
• ExAC: 11:128712280 C / T
• gnomAD v2: 11-128712280-C-T
• gnomAD v3: 11-128842385-C-T
• gnomAD v4: 11-128842385-C-T
• MyVariant Identifiers: chr11:g.128712280C>T (hg19) ; chr11:g.128842385C>T (hg38)
• PubMed: PMID:19602640

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128842385C>T , CM000673.2:g.128842385C>T	GRCh38
NC_000011.9:g.128712280C>T , CM000673.1:g.128712280C>T	GRCh37
NC_000011.8:g.128217490C>T	NCBI36
NG_009379.1:g.29989G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.-21-2121G>A MANE Select	ENSP00000376434.1:n.-21-2121G>A
ENST00000324003.3:c.-21-2121G>A	ENSP00000316136.3:n.-21-2121G>A
ENST00000324036.7:c.-21-2121G>A	ENSP00000316233.3:n.-21-2121G>A
ENST00000392664.2:c.33G>A	ENSP00000376432.2:p.Thr11=
ENST00000392665.6:c.-21-2121G>A	ENSP00000376433.2:n.-21-2121G>A
ENST00000392666.5:c.-21-2121G>A	ENSP00000376434.1:n.-21-2121G>A
ENST00000440599.6:c.-21-2121G>A	ENSP00000406320.2:n.-21-2121G>A
ENST00000531562.1:n.325-2121G>A
NM_000220.4:c.33G>A	NP_000211.1:p.Thr11=
NM_153764.2:c.-21-2121G>A	NP_722448.1:n.-21-2121G>A
NM_153765.2:c.31-2121G>A	NP_722449.3:n.31-2121G>A
NM_153766.2:c.-21-2121G>A	NP_722450.1:n.-21-2121G>A
NM_153767.3:c.-21-2121G>A	NP_722451.1:n.-21-2121G>A
NM_000220.6:c.33G>A	NP_000211.1:p.Thr11=
NM_153764.3:c.-21-2121G>A	NP_722448.1:n.-21-2121G>A
NM_153765.3:c.31-2121G>A	NP_722449.3:n.31-2121G>A
NM_153766.3:c.-21-2121G>A MANE Select	NP_722450.1:n.-21-2121G>A
NM_153767.4:c.-21-2121G>A	NP_722451.1:n.-21-2121G>A