Canonical Allele Identifier: CA658656103

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 456865
• ClinVar RCV Id: RCV002483364 ; RCV003591742
• dbSNP Id: rs1464992494
• gnomAD v4: 11-2847874-C-CG
• MyVariant Identifiers: chr11:g.2869108dup (hg19) ; chr11:g.2869104_2869105insG (hg19) ; chr11:g.2847878dup (hg38) ; chr11:g.2847874_2847875insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847878dup , CM000673.2:g.2847878dup	GRCh38
NC_000011.9:g.2869108dup , CM000673.1:g.2869108dup	GRCh37
NC_000011.8:g.2825684dup	NCBI36
NG_008935.1:g.407888dup , LRG_287:g.407888dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1549dup (KCNQ1)	ENSP00000434560.2:p.Ala517GlyfsTer16
ENST00000155840.12:c.1906dup (KCNQ1) MANE Select	ENSP00000155840.2:p.Ala636GlyfsTer16
ENST00000335475.6:c.1525dup (KCNQ1)	ENSP00000334497.5:p.Ala509GlyfsTer16
ENST00000526095.2:c.310dup (KCNQ1)	ENSP00000494939.1:p.Ala104GlyfsTer16
ENST00000155840.9:c.1906dup (KCNQ1)	ENSP00000155840.2:p.Ala636GlyfsTer16
ENST00000335475.5:c.1525dup (KCNQ1)	ENSP00000334497.5:p.Ala509GlyfsTer16
ENST00000526095.1:n.413dup (KCNQ1)
NM_000218.2:c.1906dup , LRG_287t1:c.1906dup (KCNQ1)	NP_000209.2:p.Ala636GlyfsTer16
NM_181798.1:c.1525dup , LRG_287t2:c.1525dup (KCNQ1)	NP_861463.1:p.Ala509GlyfsTer16
NR_130721.1:n.778-7433dup (KCNQ1-AS1)
NM_000218.3:c.1906dup (KCNQ1) MANE Select	NP_000209.2:p.Ala636GlyfsTer16