Canonical Allele Identifier: CA216346609
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs34368109
MyVariant Identifiers: chr11:g.2870263del (hg19) chr11:g.2849033del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2849034del , CM000673.2:g.2849034del GRCh38
NC_000011.9:g.2870264del , CM000673.1:g.2870264del GRCh37
NC_000011.8:g.2826840del NCBI36
NG_008935.1:g.409044del , LRG_287:g.409044del

Transcript Alleles

HGVS Amino-acid change
ENST00000155840.12:c.*1031del (KCNQ1) MANE Select ENSP00000155840.2:n.*1031del
ENST00000155840.9:c.*1031del (KCNQ1) ENSP00000155840.2:n.*1031del
NM_000218.2:c.*1031del , LRG_287t1:c.*1031del (KCNQ1) NP_000209.2:n.*1031del
NM_181798.1:c.*1031del , LRG_287t2:c.*1031del (KCNQ1) NP_861463.1:n.*1031del
NR_130721.1:n.778-8591del (KCNQ1-AS1)
NM_000218.3:c.*1031del (KCNQ1) MANE Select NP_000209.2:n.*1031del
Search 100 bp 5'
Search 100 bp 3'