Canonical Allele Identifier: CA2723273862
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2134098495
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848313_2848346del , CM000673.2:g.2848313_2848346del GRCh38
NC_000011.9:g.2869543_2869576del , CM000673.1:g.2869543_2869576del GRCh37
NC_000011.8:g.2826119_2826152del NCBI36
NG_008935.1:g.408323_408356del , LRG_287:g.408323_408356del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*310_*343del (KCNQ1) ENSP00000434560.2:n.*310_*343del
ENST00000155840.12:c.*310_*343del (KCNQ1) MANE Select ENSP00000155840.2:n.*310_*343del
ENST00000335475.6:c.*310_*343del (KCNQ1) ENSP00000334497.5:n.*310_*343del
ENST00000155840.9:c.*310_*343del (KCNQ1) ENSP00000155840.2:n.*310_*343del
ENST00000526095.1:n.848_881del (KCNQ1)
NM_000218.2:c.*310_*343del , LRG_287t1:c.*310_*343del (KCNQ1) NP_000209.2:n.*310_*343del
NM_181798.1:c.*310_*343del , LRG_287t2:c.*310_*343del (KCNQ1) NP_861463.1:n.*310_*343del
NR_130721.1:n.778-7897_778-7864del (KCNQ1-AS1)
NM_000218.3:c.*310_*343del (KCNQ1) MANE Select NP_000209.2:n.*310_*343del
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Search 100 bp 3'