Canonical Allele Identifier: CA2574728562
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847834dup , CM000673.2:g.2847834dup GRCh38
NC_000011.9:g.2869064dup , CM000673.1:g.2869064dup GRCh37
NC_000011.8:g.2825640dup NCBI36
NG_008935.1:g.407844dup , LRG_287:g.407844dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1505dup (KCNQ1) ENSP00000434560.2:p.Gly503TrpfsTer30
ENST00000155840.12:c.1862dup (KCNQ1) MANE Select ENSP00000155840.2:p.Gly622TrpfsTer30
ENST00000335475.6:c.1481dup (KCNQ1) ENSP00000334497.5:p.Gly495TrpfsTer30
ENST00000526095.2:c.266dup (KCNQ1) ENSP00000494939.1:p.Gly90TrpfsTer30
ENST00000155840.9:c.1862dup (KCNQ1) ENSP00000155840.2:p.Gly622TrpfsTer30
ENST00000335475.5:c.1481dup (KCNQ1) ENSP00000334497.5:p.Gly495TrpfsTer30
ENST00000526095.1:n.369dup (KCNQ1)
NM_000218.2:c.1862dup , LRG_287t1:c.1862dup (KCNQ1) NP_000209.2:p.Gly622TrpfsTer30
NM_181798.1:c.1481dup , LRG_287t2:c.1481dup (KCNQ1) NP_861463.1:p.Gly495TrpfsTer30
NR_130721.1:n.778-7391dup (KCNQ1-AS1)
NM_000218.3:c.1862dup (KCNQ1) MANE Select NP_000209.2:p.Gly622TrpfsTer30
Search 100 bp 5'
Search 100 bp 3'