Canonical Allele Identifier: CA383243864

Gene: KCNJ1

Linked Data

• dbSNP Id: rs1164667290
• gnomAD v2: 11-128709340-G-C
• MyVariant Identifiers: chr11:g.128709340G>C (hg19) ; chr11:g.128839445G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839445G>C , CM000673.2:g.128839445G>C	GRCh38
NC_000011.9:g.128709340G>C , CM000673.1:g.128709340G>C	GRCh37
NC_000011.8:g.128214550G>C	NCBI36
NG_009379.1:g.32929C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.799C>G MANE Select	ENSP00000376434.1:p.Leu267Val
ENST00000324036.7:c.799C>G	ENSP00000316233.3:p.Leu267Val
ENST00000392664.2:c.856C>G	ENSP00000376432.2:p.Leu286Val
ENST00000392665.6:c.799C>G	ENSP00000376433.2:p.Leu267Val
ENST00000392666.5:c.799C>G	ENSP00000376434.1:p.Leu267Val
ENST00000440599.6:c.799C>G	ENSP00000406320.2:p.Leu267Val
NM_000220.4:c.856C>G	NP_000211.1:p.Leu286Val
NM_153764.2:c.799C>G	NP_722448.1:p.Leu267Val
NM_153765.2:c.850C>G	NP_722449.3:p.Leu284Val
NM_153766.2:c.799C>G	NP_722450.1:p.Leu267Val
NM_153767.3:c.799C>G	NP_722451.1:p.Leu267Val
NM_000220.6:c.856C>G	NP_000211.1:p.Leu286Val
NM_153764.3:c.799C>G	NP_722448.1:p.Leu267Val
NM_153765.3:c.850C>G	NP_722449.3:p.Leu284Val
NM_153766.3:c.799C>G MANE Select	NP_722450.1:p.Leu267Val
NM_153767.4:c.799C>G	NP_722451.1:p.Leu267Val