Canonical Allele Identifier: CA383242977

Gene: KCNJ1

Linked Data

• ClinVar Variation Id: 591088
• ClinVar RCV Id: RCV000722264
• dbSNP Id: rs1565521547
• COSMIC: COSM4457735
• MyVariant Identifiers: chr11:g.128709139G>A (hg19) ; chr11:g.128839244G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839244G>A , CM000673.2:g.128839244G>A	GRCh38
NC_000011.9:g.128709139G>A , CM000673.1:g.128709139G>A	GRCh37
NC_000011.8:g.128214349G>A	NCBI36
NG_009379.1:g.33130C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000392666.6:c.1000C>T MANE Select	ENSP00000376434.1:p.Pro334Ser
ENST00000324036.7:c.1000C>T	ENSP00000316233.3:p.Pro334Ser
ENST00000392664.2:c.1057C>T	ENSP00000376432.2:p.Pro353Ser
ENST00000392665.6:c.1000C>T	ENSP00000376433.2:p.Pro334Ser
ENST00000392666.5:c.1000C>T	ENSP00000376434.1:p.Pro334Ser
ENST00000440599.6:c.1000C>T	ENSP00000406320.2:p.Pro334Ser
NM_000220.4:c.1057C>T	NP_000211.1:p.Pro353Ser
NM_153764.2:c.1000C>T	NP_722448.1:p.Pro334Ser
NM_153765.2:c.1051C>T	NP_722449.3:p.Pro351Ser
NM_153766.2:c.1000C>T	NP_722450.1:p.Pro334Ser
NM_153767.3:c.1000C>T	NP_722451.1:p.Pro334Ser
NM_000220.6:c.1057C>T	NP_000211.1:p.Pro353Ser
NM_153764.3:c.1000C>T	NP_722448.1:p.Pro334Ser
NM_153765.3:c.1051C>T	NP_722449.3:p.Pro351Ser
NM_153766.3:c.1000C>T MANE Select	NP_722450.1:p.Pro334Ser
NM_153767.4:c.1000C>T	NP_722451.1:p.Pro334Ser