Canonical Allele Identifier: CA10634498
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 304253
ClinVar RCV Id: RCV000287989 RCV000293791 RCV000332360 RCV000345059 RCV000389335
dbSNP Id: rs765566577
gnomAD v2: 11-2869814-T-C
gnomAD v3: 11-2848584-T-C
gnomAD v4: 11-2848584-T-C
MyVariant Identifiers: chr11:g.2869814T>C (hg19) chr11:g.2848584T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848584T>C , CM000673.2:g.2848584T>C GRCh38
NC_000011.9:g.2869814T>C , CM000673.1:g.2869814T>C GRCh37
NC_000011.8:g.2826390T>C NCBI36
NG_008935.1:g.408594T>C , LRG_287:g.408594T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*581T>C (KCNQ1) ENSP00000434560.2:n.*581T>C
ENST00000155840.12:c.*581T>C (KCNQ1) MANE Select ENSP00000155840.2:n.*581T>C
ENST00000335475.6:c.*581T>C (KCNQ1) ENSP00000334497.5:n.*581T>C
ENST00000155840.9:c.*581T>C (KCNQ1) ENSP00000155840.2:n.*581T>C
NM_000218.2:c.*581T>C , LRG_287t1:c.*581T>C (KCNQ1) NP_000209.2:n.*581T>C
NM_181798.1:c.*581T>C , LRG_287t2:c.*581T>C (KCNQ1) NP_861463.1:n.*581T>C
NR_130721.1:n.778-8142A>G (KCNQ1-AS1)
NM_000218.3:c.*581T>C (KCNQ1) MANE Select NP_000209.2:n.*581T>C
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