Canonical Allele Identifier: CA943466342

Gene: KCNJ1

Linked Data

• gnomAD v3: 11-128865459-C-A
• gnomAD v4: 11-128865459-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128865459C>A , CM000673.2:g.128865459C>A	GRCh38
NC_000011.9:g.128735354C>A , CM000673.1:g.128735354C>A	GRCh37
NC_000011.8:g.128240564C>A	NCBI36
NG_009379.1:g.6915G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.-192+1714G>T MANE Select	ENSP00000376434.1:n.-192+1714G>T
ENST00000324003.3:c.-192+1714G>T	ENSP00000316136.3:n.-192+1714G>T
ENST00000324036.7:c.-192+1064G>T	ENSP00000316233.3:n.-192+1064G>T
ENST00000392665.6:c.-22+1714G>T	ENSP00000376433.2:n.-22+1714G>T
ENST00000392666.5:c.-192+1714G>T	ENSP00000376434.1:n.-192+1714G>T
ENST00000440599.6:c.-22+1064G>T	ENSP00000406320.2:n.-22+1064G>T
ENST00000531562.1:n.124+1714G>T
NM_153764.2:c.-22+1714G>T	NP_722448.1:n.-22+1714G>T
NM_153765.2:c.30+1064G>T	NP_722449.3:n.30+1064G>T
NM_153766.2:c.-192+1714G>T	NP_722450.1:n.-192+1714G>T
NM_153767.3:c.-192+1064G>T	NP_722451.1:n.-192+1064G>T
XR_001748442.1:n.3533-1291C>A
NM_153764.3:c.-22+1714G>T	NP_722448.1:n.-22+1714G>T
NM_153765.3:c.30+1064G>T	NP_722449.3:n.30+1064G>T
NM_153766.3:c.-192+1714G>T MANE Select	NP_722450.1:n.-192+1714G>T
NM_153767.4:c.-192+1064G>T	NP_722451.1:n.-192+1064G>T