Canonical Allele Identifier: CA383244853

Gene: KCNJ1

Linked Data

• ClinVar Variation Id: 2627549
• ClinVar RCV Id: RCV003388812
• MyVariant Identifiers: chr11:g.128709625T>G (hg19) ; chr11:g.128839730T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839730T>G , CM000673.2:g.128839730T>G	GRCh38
NC_000011.9:g.128709625T>G , CM000673.1:g.128709625T>G	GRCh37
NC_000011.8:g.128214835T>G	NCBI36
NG_009379.1:g.32644A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.514A>C MANE Select	ENSP00000376434.1:p.Thr172Pro
ENST00000324036.7:c.514A>C	ENSP00000316233.3:p.Thr172Pro
ENST00000392664.2:c.571A>C	ENSP00000376432.2:p.Thr191Pro
ENST00000392665.6:c.514A>C	ENSP00000376433.2:p.Thr172Pro
ENST00000392666.5:c.514A>C	ENSP00000376434.1:p.Thr172Pro
ENST00000440599.6:c.514A>C	ENSP00000406320.2:p.Thr172Pro
NM_000220.4:c.571A>C	NP_000211.1:p.Thr191Pro
NM_153764.2:c.514A>C	NP_722448.1:p.Thr172Pro
NM_153765.2:c.565A>C	NP_722449.3:p.Thr189Pro
NM_153766.2:c.514A>C	NP_722450.1:p.Thr172Pro
NM_153767.3:c.514A>C	NP_722451.1:p.Thr172Pro
NM_000220.6:c.571A>C	NP_000211.1:p.Thr191Pro
NM_153764.3:c.514A>C	NP_722448.1:p.Thr172Pro
NM_153765.3:c.565A>C	NP_722449.3:p.Thr189Pro
NM_153766.3:c.514A>C MANE Select	NP_722450.1:p.Thr172Pro
NM_153767.4:c.514A>C	NP_722451.1:p.Thr172Pro