Canonical Allele Identifier: CA383247003

Gene: KCNJ1

Linked Data

• dbSNP Id: rs1435489305
• gnomAD v2: 11-128709975-T-G
• gnomAD v4: 11-128840080-T-G
• MyVariant Identifiers: chr11:g.128709975T>G (hg19) ; chr11:g.128840080T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128840080T>G , CM000673.2:g.128840080T>G	GRCh38
NC_000011.9:g.128709975T>G , CM000673.1:g.128709975T>G	GRCh37
NC_000011.8:g.128215185T>G	NCBI36
NG_009379.1:g.32294A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.164A>C MANE Select	ENSP00000376434.1:p.Asp55Ala
ENST00000324003.3:c.164A>C	ENSP00000316136.3:p.Asp55Ala
ENST00000324036.7:c.164A>C	ENSP00000316233.3:p.Asp55Ala
ENST00000392664.2:c.221A>C	ENSP00000376432.2:p.Asp74Ala
ENST00000392665.6:c.164A>C	ENSP00000376433.2:p.Asp55Ala
ENST00000392666.5:c.164A>C	ENSP00000376434.1:p.Asp55Ala
ENST00000440599.6:c.164A>C	ENSP00000406320.2:p.Asp55Ala
ENST00000531562.1:n.509A>C
NM_000220.4:c.221A>C	NP_000211.1:p.Asp74Ala
NM_153764.2:c.164A>C	NP_722448.1:p.Asp55Ala
NM_153765.2:c.215A>C	NP_722449.3:p.Asp72Ala
NM_153766.2:c.164A>C	NP_722450.1:p.Asp55Ala
NM_153767.3:c.164A>C	NP_722451.1:p.Asp55Ala
NM_000220.6:c.221A>C	NP_000211.1:p.Asp74Ala
NM_153764.3:c.164A>C	NP_722448.1:p.Asp55Ala
NM_153765.3:c.215A>C	NP_722449.3:p.Asp72Ala
NM_153766.3:c.164A>C MANE Select	NP_722450.1:p.Asp55Ala
NM_153767.4:c.164A>C	NP_722451.1:p.Asp55Ala