Canonical Allele Identifier: CA005784

Gene: KCNQ1 KCNQ1OT1

Linked Data

• ClinVar Variation Id: 200849
• ClinVar RCV Id: RCV000182192 ; RCV000701786 ; RCV002390457 ; RCV001842873
• dbSNP Id: rs778041701
• ExAC: 11:2683261 C / A
• gnomAD v2: 11-2683261-C-A
• gnomAD v3: 11-2662031-C-A
• gnomAD v4: 11-2662031-C-A
• MyVariant Identifiers: chr11:g.2683261C>A (hg19) ; chr11:g.2662031C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662031C>A , CM000673.2:g.2662031C>A	GRCh38
NC_000011.9:g.2683261C>A , CM000673.1:g.2683261C>A	GRCh37
NC_000011.8:g.2639837C>A	NCBI36
NG_008935.1:g.222041C>A , LRG_287:g.222041C>A
NG_016178.2:g.42968G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1107C>A (KCNQ1)	ENSP00000434560.2:p.Asp369Glu
ENST00000646564.2:c.924C>A (KCNQ1)	ENSP00000495806.2:p.Asp308Glu
ENST00000155840.12:c.1464C>A (KCNQ1) MANE Select	ENSP00000155840.2:p.Asp488Glu
ENST00000335475.6:c.1083C>A (KCNQ1)	ENSP00000334497.5:p.Asp361Glu
ENST00000646564.1:c.570C>A (KCNQ1)	ENSP00000495806.1:p.Asp190Glu
ENST00000155840.9:c.1464C>A (KCNQ1)	ENSP00000155840.2:p.Asp488Glu
ENST00000335475.5:c.1083C>A (KCNQ1)	ENSP00000334497.5:p.Asp361Glu
NM_000218.2:c.1464C>A , LRG_287t1:c.1464C>A (KCNQ1)	NP_000209.2:p.Asp488Glu
NM_181798.1:c.1083C>A , LRG_287t2:c.1083C>A (KCNQ1)	NP_861463.1:p.Asp361Glu
NR_002728.3:n.37968G>T (KCNQ1OT1)
NM_000218.3:c.1464C>A (KCNQ1) MANE Select	NP_000209.2:p.Asp488Glu