Canonical Allele Identifier: CA005820

Gene: KCNQ1 KCNQ1OT1

Linked Data

• ClinVar Variation Id: 52984
• ClinVar RCV Id: RCV000577463 ; RCV000614087 ; RCV000622334 ; RCV001659985 ; RCV002390193
• dbSNP Id: rs397508091
• gnomAD v4: 11-2662080-C-T
• MyVariant Identifiers: chr11:g.2683310C>T (hg19) ; chr11:g.2662080C>T (hg38)
• PubMed: PMID:19716085 ; PMID:19841300

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662080C>T , CM000673.2:g.2662080C>T	GRCh38
NC_000011.9:g.2683310C>T , CM000673.1:g.2683310C>T	GRCh37
NC_000011.8:g.2639886C>T	NCBI36
NG_008935.1:g.222090C>T , LRG_287:g.222090C>T
NG_016178.2:g.42919G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1156C>T (KCNQ1)	ENSP00000434560.2:p.Gln386Ter
ENST00000646564.2:c.973C>T (KCNQ1)	ENSP00000495806.2:p.Gln325Ter
ENST00000155840.12:c.1513C>T (KCNQ1) MANE Select	ENSP00000155840.2:p.Gln505Ter
ENST00000335475.6:c.1132C>T (KCNQ1)	ENSP00000334497.5:p.Gln378Ter
ENST00000646564.1:c.619C>T (KCNQ1)	ENSP00000495806.1:p.Gln207Ter
ENST00000155840.9:c.1513C>T (KCNQ1)	ENSP00000155840.2:p.Gln505Ter
ENST00000335475.5:c.1132C>T (KCNQ1)	ENSP00000334497.5:p.Gln378Ter
NM_000218.2:c.1513C>T , LRG_287t1:c.1513C>T (KCNQ1)	NP_000209.2:p.Gln505Ter
NM_181798.1:c.1132C>T , LRG_287t2:c.1132C>T (KCNQ1)	NP_861463.1:p.Gln378Ter
NR_002728.3:n.37919G>A (KCNQ1OT1)
NM_000218.3:c.1513C>T (KCNQ1) MANE Select	NP_000209.2:p.Gln505Ter