Canonical Allele Identifier: CA934491308
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1848398643
gnomAD v3: 11-2848855-CAG-C
gnomAD v4: 11-2848855-CAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848856_2848857del , CM000673.2:g.2848856_2848857del GRCh38
NC_000011.9:g.2870086_2870087del , CM000673.1:g.2870086_2870087del GRCh37
NC_000011.8:g.2826662_2826663del NCBI36
NG_008935.1:g.408866_408867del , LRG_287:g.408866_408867del

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.*853_*854del (KCNQ1) ENSP00000434560.2:n.*853_*854del
ENST00000155840.12:c.*853_*854del (KCNQ1) MANE Select ENSP00000155840.2:n.*853_*854del
ENST00000335475.6:c.*853_*854del (KCNQ1) ENSP00000334497.5:n.*853_*854del
ENST00000155840.9:c.*853_*854del (KCNQ1) ENSP00000155840.2:n.*853_*854del
NM_000218.2:c.*853_*854del , LRG_287t1:c.*853_*854del (KCNQ1) NP_000209.2:n.*853_*854del
NM_181798.1:c.*853_*854del , LRG_287t2:c.*853_*854del (KCNQ1) NP_861463.1:n.*853_*854del
NR_130721.1:n.778-8415_778-8414del (KCNQ1-AS1)
NM_000218.3:c.*853_*854del (KCNQ1) MANE Select NP_000209.2:n.*853_*854del
Search 100 bp 5'
Search 100 bp 3'