Canonical Allele Identifier: CA10582885

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 237223
• ClinVar RCV Id: RCV000228383
• dbSNP Id: rs1554919460
• MyVariant Identifiers: chr11:g.2790067_2790068insGC (hg19) ; chr11:g.2768837_2768838insGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768837_2768838insGC , CM000673.2:g.2768837_2768838insGC	GRCh38
NC_000011.9:g.2790067_2790068insGC , CM000673.1:g.2790067_2790068insGC	GRCh37
NC_000011.8:g.2746643_2746644insGC	NCBI36
NG_008935.1:g.328847_328848insGC , LRG_287:g.328847_328848insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1158-7_1158-6insGC	ENSP00000434560.2:n.1158-7_1158-6insGC
ENST00000646564.2:c.975-7_975-6insGC	ENSP00000495806.2:n.975-7_975-6insGC
ENST00000155840.12:c.1515-7_1515-6insGC MANE Select	ENSP00000155840.2:n.1515-7_1515-6insGC
ENST00000335475.6:c.1134-7_1134-6insGC	ENSP00000334497.5:n.1134-7_1134-6insGC
ENST00000646564.1:c.621-7_621-6insGC	ENSP00000495806.1:n.621-7_621-6insGC
ENST00000155840.9:c.1515-7_1515-6insGC	ENSP00000155840.2:n.1515-7_1515-6insGC
ENST00000335475.5:c.1134-7_1134-6insGC	ENSP00000334497.5:n.1134-7_1134-6insGC
NM_000218.2:c.1515-7_1515-6insGC , LRG_287t1:c.1515-7_1515-6insGC	NP_000209.2:n.1515-7_1515-6insGC
NM_181798.1:c.1134-7_1134-6insGC , LRG_287t2:c.1134-7_1134-6insGC	NP_861463.1:n.1134-7_1134-6insGC
NM_000218.3:c.1515-7_1515-6insGC MANE Select	NP_000209.2:n.1515-7_1515-6insGC