Canonical Allele Identifier: CA383243851

Gene: KCNJ1

Linked Data

• gnomAD v4: 11-128839442-G-A
• COSMIC: COSM1297814
• MyVariant Identifiers: chr11:g.128709337G>A (hg19) ; chr11:g.128839442G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839442G>A , CM000673.2:g.128839442G>A	GRCh38
NC_000011.9:g.128709337G>A , CM000673.1:g.128709337G>A	GRCh37
NC_000011.8:g.128214547G>A	NCBI36
NG_009379.1:g.32932C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.802C>T MANE Select	ENSP00000376434.1:p.Leu268Phe
ENST00000324036.7:c.802C>T	ENSP00000316233.3:p.Leu268Phe
ENST00000392664.2:c.859C>T	ENSP00000376432.2:p.Leu287Phe
ENST00000392665.6:c.802C>T	ENSP00000376433.2:p.Leu268Phe
ENST00000392666.5:c.802C>T	ENSP00000376434.1:p.Leu268Phe
ENST00000440599.6:c.802C>T	ENSP00000406320.2:p.Leu268Phe
NM_000220.4:c.859C>T	NP_000211.1:p.Leu287Phe
NM_153764.2:c.802C>T	NP_722448.1:p.Leu268Phe
NM_153765.2:c.853C>T	NP_722449.3:p.Leu285Phe
NM_153766.2:c.802C>T	NP_722450.1:p.Leu268Phe
NM_153767.3:c.802C>T	NP_722451.1:p.Leu268Phe
NM_000220.6:c.859C>T	NP_000211.1:p.Leu287Phe
NM_153764.3:c.802C>T	NP_722448.1:p.Leu268Phe
NM_153765.3:c.853C>T	NP_722449.3:p.Leu285Phe
NM_153766.3:c.802C>T MANE Select	NP_722450.1:p.Leu268Phe
NM_153767.4:c.802C>T	NP_722451.1:p.Leu268Phe