Canonical Allele Identifier: CA379138907

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2790083A>C (hg19) ; chr11:g.2768853A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768853A>C , CM000673.2:g.2768853A>C	GRCh38
NC_000011.9:g.2790083A>C , CM000673.1:g.2790083A>C	GRCh37
NC_000011.8:g.2746659A>C	NCBI36
NG_008935.1:g.328863A>C , LRG_287:g.328863A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1167A>C	ENSP00000434560.2:p.Glu389Asp
ENST00000646564.2:c.984A>C	ENSP00000495806.2:p.Glu328Asp
ENST00000155840.12:c.1524A>C MANE Select	ENSP00000155840.2:p.Glu508Asp
ENST00000335475.6:c.1143A>C	ENSP00000334497.5:p.Glu381Asp
ENST00000646564.1:c.630A>C	ENSP00000495806.1:p.Glu210Asp
ENST00000155840.9:c.1524A>C	ENSP00000155840.2:p.Glu508Asp
ENST00000335475.5:c.1143A>C	ENSP00000334497.5:p.Glu381Asp
NM_000218.2:c.1524A>C , LRG_287t1:c.1524A>C	NP_000209.2:p.Glu508Asp
NM_181798.1:c.1143A>C , LRG_287t2:c.1143A>C	NP_861463.1:p.Glu381Asp
NM_000218.3:c.1524A>C MANE Select	NP_000209.2:p.Glu508Asp