Canonical Allele Identifier: CA2612011237

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• dbSNP Id: rs2134096974
• gnomAD v4: 11-2847833-G-GGTGGCAGCACCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847834_2847845dup , CM000673.2:g.2847834_2847845dup	GRCh38
NC_000011.9:g.2869064_2869075dup , CM000673.1:g.2869064_2869075dup	GRCh37
NC_000011.8:g.2825640_2825651dup	NCBI36
NG_008935.1:g.407844_407855dup , LRG_287:g.407844_407855dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1505_1516dup (KCNQ1)	ENSP00000434560.2:p.Thr505_Pro506insArgGlySerThr
ENST00000155840.12:c.1862_1873dup (KCNQ1) MANE Select	ENSP00000155840.2:p.Thr624_Pro625insArgGlySerThr
ENST00000335475.6:c.1481_1492dup (KCNQ1)	ENSP00000334497.5:p.Thr497_Pro498insArgGlySerThr
ENST00000526095.2:c.266_277dup (KCNQ1)	ENSP00000494939.1:p.Thr92_Pro93insArgGlySerThr
ENST00000155840.9:c.1862_1873dup (KCNQ1)	ENSP00000155840.2:p.Thr624_Pro625insArgGlySerThr
ENST00000335475.5:c.1481_1492dup (KCNQ1)	ENSP00000334497.5:p.Thr497_Pro498insArgGlySerThr
ENST00000526095.1:n.369_380dup (KCNQ1)
NM_000218.2:c.1862_1873dup , LRG_287t1:c.1862_1873dup (KCNQ1)	NP_000209.2:p.Thr624_Pro625insArgGlySerThr
NM_181798.1:c.1481_1492dup , LRG_287t2:c.1481_1492dup (KCNQ1)	NP_861463.1:p.Thr497_Pro498insArgGlySerThr
NR_130721.1:n.778-7403_778-7392dup (KCNQ1-AS1)
NM_000218.3:c.1862_1873dup (KCNQ1) MANE Select	NP_000209.2:p.Thr624_Pro625insArgGlySerThr