Canonical Allele Identifier: CA216145659

Gene: KCNQ1 KCNQ1OT1

Linked Data

• ClinVar Variation Id: 3037835
• ClinVar RCV Id: RCV003917209
• dbSNP Id: rs760125033
• gnomAD v2: 11-2652656-G-GT
• gnomAD v3: 11-2631426-G-GT
• gnomAD v4: 11-2631426-G-GT
• MyVariant Identifiers: chr11:g.2652656_2652657insT (hg19) ; chr11:g.2631426_2631427insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2631436dup , CM000673.2:g.2631436dup	GRCh38
NC_000011.9:g.2652666dup , CM000673.1:g.2652666dup	GRCh37
NC_000011.8:g.2609242dup	NCBI36
NG_008935.1:g.191446dup , LRG_287:g.191446dup
NG_016178.2:g.73572dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1037-30525dup (KCNQ1)	ENSP00000434560.2:n.1037-30525dup
ENST00000646564.2:c.854-30525dup (KCNQ1)	ENSP00000495806.2:n.854-30525dup
ENST00000155840.12:c.1394-30525dup (KCNQ1) MANE Select	ENSP00000155840.2:n.1394-30525dup
ENST00000335475.6:c.1013-30525dup (KCNQ1)	ENSP00000334497.5:n.1013-30525dup
ENST00000646564.1:c.500-30525dup (KCNQ1)	ENSP00000495806.1:n.500-30525dup
ENST00000155840.9:c.1394-30525dup (KCNQ1)	ENSP00000155840.2:n.1394-30525dup
ENST00000335475.5:c.1013-30525dup (KCNQ1)	ENSP00000334497.5:n.1013-30525dup
NM_000218.2:c.1394-30525dup , LRG_287t1:c.1394-30525dup (KCNQ1)	NP_000209.2:n.1394-30525dup
NM_181798.1:c.1013-30525dup , LRG_287t2:c.1013-30525dup (KCNQ1)	NP_861463.1:n.1013-30525dup
NR_002728.3:n.68572dup (KCNQ1OT1)
NM_000218.3:c.1394-30525dup (KCNQ1) MANE Select	NP_000209.2:n.1394-30525dup