Canonical Allele Identifier: CA6357488

Gene: KCNJ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839643G>A , CM000673.2:g.128839643G>A	GRCh38
NC_000011.9:g.128709538G>A , CM000673.1:g.128709538G>A	GRCh37
NC_000011.8:g.128214748G>A	NCBI36
NG_009379.1:g.32731C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_153766.3:c.601C>T MANE Select	NP_722450.1:p.Leu201Phe
ENST00000392666.6:c.601C>T MANE Select	ENSP00000376434.1:p.Leu201Phe
NM_000220.4:c.658C>T	NP_000211.1:p.Leu220Phe
NM_000220.6:c.658C>T	NP_000211.1:p.Leu220Phe
NM_153764.2:c.601C>T	NP_722448.1:p.Leu201Phe
NM_153764.3:c.601C>T	NP_722448.1:p.Leu201Phe
NM_153765.2:c.652C>T	NP_722449.3:p.Leu218Phe
NM_153765.3:c.652C>T	NP_722449.3:p.Leu218Phe
NM_153766.2:c.601C>T	NP_722450.1:p.Leu201Phe
NM_153767.3:c.601C>T	NP_722451.1:p.Leu201Phe
NM_153767.4:c.601C>T	NP_722451.1:p.Leu201Phe
ENST00000324036.7:c.601C>T	ENSP00000316233.3:p.Leu201Phe
ENST00000392664.2:c.658C>T	ENSP00000376432.2:p.Leu220Phe
ENST00000392665.6:c.601C>T	ENSP00000376433.2:p.Leu201Phe
ENST00000392666.5:c.601C>T	ENSP00000376434.1:p.Leu201Phe
ENST00000440599.6:c.601C>T	ENSP00000406320.2:p.Leu201Phe