Canonical Allele Identifier: CA383247041

Gene: KCNJ1

Linked Data

• MyVariant Identifiers: chr11:g.128709982C>G (hg19) ; chr11:g.128840087C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128840087C>G , CM000673.2:g.128840087C>G	GRCh38
NC_000011.9:g.128709982C>G , CM000673.1:g.128709982C>G	GRCh37
NC_000011.8:g.128215192C>G	NCBI36
NG_009379.1:g.32287G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.157G>C MANE Select	ENSP00000376434.1:p.Val53Leu
ENST00000324003.3:c.157G>C	ENSP00000316136.3:p.Val53Leu
ENST00000324036.7:c.157G>C	ENSP00000316233.3:p.Val53Leu
ENST00000392664.2:c.214G>C	ENSP00000376432.2:p.Val72Leu
ENST00000392665.6:c.157G>C	ENSP00000376433.2:p.Val53Leu
ENST00000392666.5:c.157G>C	ENSP00000376434.1:p.Val53Leu
ENST00000440599.6:c.157G>C	ENSP00000406320.2:p.Val53Leu
ENST00000531562.1:n.502G>C
NM_000220.4:c.214G>C	NP_000211.1:p.Val72Leu
NM_153764.2:c.157G>C	NP_722448.1:p.Val53Leu
NM_153765.2:c.208G>C	NP_722449.3:p.Val70Leu
NM_153766.2:c.157G>C	NP_722450.1:p.Val53Leu
NM_153767.3:c.157G>C	NP_722451.1:p.Val53Leu
NM_000220.6:c.214G>C	NP_000211.1:p.Val72Leu
NM_153764.3:c.157G>C	NP_722448.1:p.Val53Leu
NM_153765.3:c.208G>C	NP_722449.3:p.Val70Leu
NM_153766.3:c.157G>C MANE Select	NP_722450.1:p.Val53Leu
NM_153767.4:c.157G>C	NP_722451.1:p.Val53Leu