Canonical Allele Identifier: CA10634516
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 304271
ClinVar RCV Id: RCV000309780 RCV000340232 RCV000364434 RCV000404322 RCV000406293
dbSNP Id: rs375155898
gnomAD v2: 11-2870288-C-T
gnomAD v3: 11-2849058-C-T
gnomAD v4: 11-2849058-C-T
MyVariant Identifiers: chr11:g.2870288C>T (hg19) chr11:g.2849058C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2849058C>T , CM000673.2:g.2849058C>T GRCh38
NC_000011.9:g.2870288C>T , CM000673.1:g.2870288C>T GRCh37
NC_000011.8:g.2826864C>T NCBI36
NG_008935.1:g.409068C>T , LRG_287:g.409068C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000155840.12:c.*1055C>T (KCNQ1) MANE Select ENSP00000155840.2:n.*1055C>T
ENST00000155840.9:c.*1055C>T (KCNQ1) ENSP00000155840.2:n.*1055C>T
NM_000218.2:c.*1055C>T , LRG_287t1:c.*1055C>T (KCNQ1) NP_000209.2:n.*1055C>T
NM_181798.1:c.*1055C>T , LRG_287t2:c.*1055C>T (KCNQ1) NP_861463.1:n.*1055C>T
NR_130721.1:n.778-8616G>A (KCNQ1-AS1)
NM_000218.3:c.*1055C>T (KCNQ1) MANE Select NP_000209.2:n.*1055C>T
Search 100 bp 5'
Search 100 bp 3'