Canonical Allele Identifier: CA034124

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 1783891
• ClinVar RCV Id: RCV002423763 ; RCV003533248
• dbSNP Id: rs375289892
• ExAC: 11:2869189 G / A
• gnomAD v2: 11-2869189-G-A
• gnomAD v3: 11-2847959-G-A
• gnomAD v4: 11-2847959-G-A
• MyVariant Identifiers: chr11:g.2869189G>A (hg19) ; chr11:g.2847959G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847959G>A , CM000673.2:g.2847959G>A	GRCh38
NC_000011.9:g.2869189G>A , CM000673.1:g.2869189G>A	GRCh37
NC_000011.8:g.2825765G>A	NCBI36
NG_008935.1:g.407969G>A , LRG_287:g.407969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1630G>A (KCNQ1)	ENSP00000434560.2:p.Glu544Lys
ENST00000155840.12:c.1987G>A (KCNQ1) MANE Select	ENSP00000155840.2:p.Glu663Lys
ENST00000335475.6:c.1606G>A (KCNQ1)	ENSP00000334497.5:p.Glu536Lys
ENST00000526095.2:c.391G>A (KCNQ1)	ENSP00000494939.1:p.Glu131Lys
ENST00000155840.9:c.1987G>A (KCNQ1)	ENSP00000155840.2:p.Glu663Lys
ENST00000335475.5:c.1606G>A (KCNQ1)	ENSP00000334497.5:p.Glu536Lys
ENST00000526095.1:n.494G>A (KCNQ1)
NM_000218.2:c.1987G>A , LRG_287t1:c.1987G>A (KCNQ1)	NP_000209.2:p.Glu663Lys
NM_181798.1:c.1606G>A , LRG_287t2:c.1606G>A (KCNQ1)	NP_861463.1:p.Glu536Lys
NR_130721.1:n.778-7517C>T (KCNQ1-AS1)
NM_000218.3:c.1987G>A (KCNQ1) MANE Select	NP_000209.2:p.Glu663Lys