Canonical Allele Identifier: CA005747
Gene: KCNQ1 HGNC NCBI
KCNQ1OT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 138004
ClinVar RCV Id: RCV000155134 RCV000295959 RCV000317191 RCV000348591 RCV000387233 RCV000387984 RCV000588614 RCV001094054
dbSNP Id: rs371488379
ExAC: 11:2683183 C / T
gnomAD v2: 11-2683183-C-T
gnomAD v3: 11-2661953-C-T
gnomAD v4: 11-2661953-C-T
MyVariant Identifiers: chr11:g.2683183C>T (hg19) chr11:g.2661953C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2661953C>T , CM000673.2:g.2661953C>T GRCh38
NC_000011.9:g.2683183C>T , CM000673.1:g.2683183C>T GRCh37
NC_000011.8:g.2639759C>T NCBI36
NG_008935.1:g.221963C>T , LRG_287:g.221963C>T
NG_016178.2:g.43046G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1037-8C>T (KCNQ1) ENSP00000434560.2:n.1037-8C>T
ENST00000646564.2:c.854-8C>T (KCNQ1) ENSP00000495806.2:n.854-8C>T
ENST00000155840.12:c.1394-8C>T (KCNQ1) MANE Select ENSP00000155840.2:n.1394-8C>T
ENST00000335475.6:c.1013-8C>T (KCNQ1) ENSP00000334497.5:n.1013-8C>T
ENST00000646564.1:c.500-8C>T (KCNQ1) ENSP00000495806.1:n.500-8C>T
ENST00000155840.9:c.1394-8C>T (KCNQ1) ENSP00000155840.2:n.1394-8C>T
ENST00000335475.5:c.1013-8C>T (KCNQ1) ENSP00000334497.5:n.1013-8C>T
NM_000218.2:c.1394-8C>T , LRG_287t1:c.1394-8C>T (KCNQ1) NP_000209.2:n.1394-8C>T
NM_181798.1:c.1013-8C>T , LRG_287t2:c.1013-8C>T (KCNQ1) NP_861463.1:n.1013-8C>T
NR_002728.3:n.38046G>A (KCNQ1OT1)
NM_000218.3:c.1394-8C>T (KCNQ1) MANE Select NP_000209.2:n.1394-8C>T
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