Canonical Allele Identifier: CA2790204840
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2849031_2849032insC , CM000673.2:g.2849031_2849032insC GRCh38
NC_000011.9:g.2870261_2870262insC , CM000673.1:g.2870261_2870262insC GRCh37
NC_000011.8:g.2826837_2826838insC NCBI36
NG_008935.1:g.409041_409042insC , LRG_287:g.409041_409042insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000155840.12:c.*1028_*1029insC (KCNQ1) MANE Select ENSP00000155840.2:n.*1028_*1029insC
ENST00000155840.9:c.*1028_*1029insC (KCNQ1) ENSP00000155840.2:n.*1028_*1029insC
NM_000218.2:c.*1028_*1029insC , LRG_287t1:c.*1028_*1029insC (KCNQ1) NP_000209.2:n.*1028_*1029insC
NM_181798.1:c.*1028_*1029insC , LRG_287t2:c.*1028_*1029insC (KCNQ1) NP_861463.1:n.*1028_*1029insC
NR_130721.1:n.778-8590_778-8589insG (KCNQ1-AS1)
NM_000218.3:c.*1028_*1029insC (KCNQ1) MANE Select NP_000209.2:n.*1028_*1029insC