Canonical Allele Identifier: CA006401

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67055
• ClinVar RCV Id: RCV000057639 ; RCV001366809
• dbSNP Id: rs199472816
• MyVariant Identifiers: chr11:g.2799259G>A (hg19) ; chr11:g.2778029G>A (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778029G>A , CM000673.2:g.2778029G>A	GRCh38
NC_000011.9:g.2799259G>A , CM000673.1:g.2799259G>A	GRCh37
NC_000011.8:g.2755835G>A	NCBI36
NG_008935.1:g.338039G>A , LRG_287:g.338039G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1429G>A	ENSP00000434560.2:p.Glu477Lys
ENST00000646564.2:c.1246G>A	ENSP00000495806.2:p.Glu416Lys
ENST00000155840.12:c.1786G>A MANE Select	ENSP00000155840.2:p.Glu596Lys
ENST00000335475.6:c.1405G>A	ENSP00000334497.5:p.Glu469Lys
ENST00000526095.2:c.190G>A	ENSP00000494939.1:p.Glu64Lys
ENST00000646564.1:c.892G>A	ENSP00000495806.1:p.Glu298Lys
ENST00000155840.9:c.1786G>A	ENSP00000155840.2:p.Glu596Lys
ENST00000335475.5:c.1405G>A	ENSP00000334497.5:p.Glu469Lys
ENST00000526095.1:n.293G>A
NM_000218.2:c.1786G>A , LRG_287t1:c.1786G>A	NP_000209.2:p.Glu596Lys
NM_181798.1:c.1405G>A , LRG_287t2:c.1405G>A	NP_861463.1:p.Glu469Lys
NM_000218.3:c.1786G>A MANE Select	NP_000209.2:p.Glu596Lys