Canonical Allele Identifier: CA379139817

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2799265A>G (hg19) ; chr11:g.2778035A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778035A>G , CM000673.2:g.2778035A>G	GRCh38
NC_000011.9:g.2799265A>G , CM000673.1:g.2799265A>G	GRCh37
NC_000011.8:g.2755841A>G	NCBI36
NG_008935.1:g.338045A>G , LRG_287:g.338045A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1435A>G	ENSP00000434560.2:p.Lys479Glu
ENST00000646564.2:c.1252A>G	ENSP00000495806.2:p.Lys418Glu
ENST00000155840.12:c.1792A>G MANE Select	ENSP00000155840.2:p.Lys598Glu
ENST00000335475.6:c.1411A>G	ENSP00000334497.5:p.Lys471Glu
ENST00000526095.2:c.196A>G	ENSP00000494939.1:p.Lys66Glu
ENST00000646564.1:c.898A>G	ENSP00000495806.1:p.Lys300Glu
ENST00000155840.9:c.1792A>G	ENSP00000155840.2:p.Lys598Glu
ENST00000335475.5:c.1411A>G	ENSP00000334497.5:p.Lys471Glu
ENST00000526095.1:n.299A>G
NM_000218.2:c.1792A>G , LRG_287t1:c.1792A>G	NP_000209.2:p.Lys598Glu
NM_181798.1:c.1411A>G , LRG_287t2:c.1411A>G	NP_861463.1:p.Lys471Glu
NM_000218.3:c.1792A>G MANE Select	NP_000209.2:p.Lys598Glu