Canonical Allele Identifier: CA2790204811
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848871del , CM000673.2:g.2848871del GRCh38
NC_000011.9:g.2870101del , CM000673.1:g.2870101del GRCh37
NC_000011.8:g.2826677del NCBI36
NG_008935.1:g.408881del , LRG_287:g.408881del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*868del (KCNQ1) ENSP00000434560.2:n.*868del
ENST00000155840.12:c.*868del (KCNQ1) MANE Select ENSP00000155840.2:n.*868del
ENST00000335475.6:c.*868del (KCNQ1) ENSP00000334497.5:n.*868del
ENST00000155840.9:c.*868del (KCNQ1) ENSP00000155840.2:n.*868del
NM_000218.2:c.*868del , LRG_287t1:c.*868del (KCNQ1) NP_000209.2:n.*868del
NM_181798.1:c.*868del , LRG_287t2:c.*868del (KCNQ1) NP_861463.1:n.*868del
NR_130721.1:n.778-8427del (KCNQ1-AS1)
NM_000218.3:c.*868del (KCNQ1) MANE Select NP_000209.2:n.*868del