Canonical Allele Identifier: CA5822090
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 304243
ClinVar RCV Id: RCV000261614 RCV000319600 RCV000354113 RCV000367323 RCV001731581
dbSNP Id: rs762386874
ExAC: 11:2869605 AG / A
gnomAD v2: 11-2869605-AG-A
gnomAD v3: 11-2848375-AG-A
gnomAD v4: 11-2848375-AG-A
MyVariant Identifiers: chr11:g.2869610del (hg19) chr11:g.2869606del (hg19) chr11:g.2869610_2869626delinsCTTCCTGAGGGGAGAC (hg19) chr11:g.2848380del (hg38) chr11:g.2848376del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848380del , CM000673.2:g.2848380del GRCh38
NC_000011.9:g.2869610del , CM000673.1:g.2869610del GRCh37
NC_000011.8:g.2826186del NCBI36
NG_008935.1:g.408390del , LRG_287:g.408390del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*377del (KCNQ1) ENSP00000434560.2:n.*377del
ENST00000155840.12:c.*377del (KCNQ1) MANE Select ENSP00000155840.2:n.*377del
ENST00000335475.6:c.*377del (KCNQ1) ENSP00000334497.5:n.*377del
ENST00000155840.9:c.*377del (KCNQ1) ENSP00000155840.2:n.*377del
ENST00000526095.1:n.915del (KCNQ1)
NM_000218.2:c.*377del , LRG_287t1:c.*377del (KCNQ1) NP_000209.2:n.*377del
NM_181798.1:c.*377del , LRG_287t2:c.*377del (KCNQ1) NP_861463.1:n.*377del
NR_130721.1:n.778-7934del (KCNQ1-AS1)
NM_000218.3:c.*377del (KCNQ1) MANE Select NP_000209.2:n.*377del
Search 100 bp 5'
Search 100 bp 3'