Canonical Allele Identifier: CA597443115

Gene: KCNQ1 KCNQ1OT1

Linked Data

• ClinVar Variation Id: 992773
• ClinVar RCV Id: RCV001281521 ; RCV001871637 ; RCV002393684
• dbSNP Id: rs1254052516
• gnomAD v2: 11-2683257-A-AGGACCT
• gnomAD v4: 11-2662027-A-AGGACCT
• MyVariant Identifiers: chr11:g.2683257_2683258insGGACCT (hg19) ; chr11:g.2662027_2662028insGGACCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662037_2662042dup , CM000673.2:g.2662037_2662042dup	GRCh38
NC_000011.9:g.2683267_2683272dup , CM000673.1:g.2683267_2683272dup	GRCh37
NC_000011.8:g.2639843_2639848dup	NCBI36
NG_008935.1:g.222047_222052dup , LRG_287:g.222047_222052dup
NG_016178.2:g.42966_42971dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1113_1118dup (KCNQ1)	ENSP00000434560.2:p.Leu372_Glu373insAspLeu
ENST00000646564.2:c.930_935dup (KCNQ1)	ENSP00000495806.2:p.Leu311_Glu312insAspLeu
ENST00000155840.12:c.1470_1475dup (KCNQ1) MANE Select	ENSP00000155840.2:p.Leu491_Glu492insAspLeu
ENST00000335475.6:c.1089_1094dup (KCNQ1)	ENSP00000334497.5:p.Leu364_Glu365insAspLeu
ENST00000646564.1:c.576_581dup (KCNQ1)	ENSP00000495806.1:p.Leu193_Glu194insAspLeu
ENST00000155840.9:c.1470_1475dup (KCNQ1)	ENSP00000155840.2:p.Leu491_Glu492insAspLeu
ENST00000335475.5:c.1089_1094dup (KCNQ1)	ENSP00000334497.5:p.Leu364_Glu365insAspLeu
NM_000218.2:c.1470_1475dup , LRG_287t1:c.1470_1475dup (KCNQ1)	NP_000209.2:p.Leu491_Glu492insAspLeu
NM_181798.1:c.1089_1094dup , LRG_287t2:c.1089_1094dup (KCNQ1)	NP_861463.1:p.Leu364_Glu365insAspLeu
NR_002728.3:n.37966_37971dup (KCNQ1OT1)
NM_000218.3:c.1470_1475dup (KCNQ1) MANE Select	NP_000209.2:p.Leu491_Glu492insAspLeu