Canonical Allele Identifier: CA934491036
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1848380049
gnomAD v3: 11-2848206-TGG-T
gnomAD v4: 11-2848206-TGG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848210_2848211del , CM000673.2:g.2848210_2848211del GRCh38
NC_000011.9:g.2869440_2869441del , CM000673.1:g.2869440_2869441del GRCh37
NC_000011.8:g.2826016_2826017del NCBI36
NG_008935.1:g.408220_408221del , LRG_287:g.408220_408221del

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.*207_*208del (KCNQ1) ENSP00000434560.2:n.*207_*208del
ENST00000155840.12:c.*207_*208del (KCNQ1) MANE Select ENSP00000155840.2:n.*207_*208del
ENST00000335475.6:c.*207_*208del (KCNQ1) ENSP00000334497.5:n.*207_*208del
ENST00000526095.2:c.*207_*208del (KCNQ1) ENSP00000494939.1:n.*207_*208del
ENST00000155840.9:c.*207_*208del (KCNQ1) ENSP00000155840.2:n.*207_*208del
ENST00000335475.5:c.*207_*208del (KCNQ1) ENSP00000334497.5:n.*207_*208del
ENST00000526095.1:n.745_746del (KCNQ1)
NM_000218.2:c.*207_*208del , LRG_287t1:c.*207_*208del (KCNQ1) NP_000209.2:n.*207_*208del
NM_181798.1:c.*207_*208del , LRG_287t2:c.*207_*208del (KCNQ1) NP_861463.1:n.*207_*208del
NR_130721.1:n.778-7766_778-7765del (KCNQ1-AS1)
NM_000218.3:c.*207_*208del (KCNQ1) MANE Select NP_000209.2:n.*207_*208del
Search 100 bp 5'
Search 100 bp 3'