Canonical Allele Identifier: CA2723276823

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• dbSNP Id: rs2134100299

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2849070_2849072del , CM000673.2:g.2849070_2849072del	GRCh38
NC_000011.9:g.2870300_2870302del , CM000673.1:g.2870300_2870302del	GRCh37
NC_000011.8:g.2826876_2826878del	NCBI36
NG_008935.1:g.409080_409082del , LRG_287:g.409080_409082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000155840.12:c.*1067_*1069del (KCNQ1) MANE Select	ENSP00000155840.2:n.*1067_*1069del
ENST00000155840.9:c.*1067_*1069del (KCNQ1)	ENSP00000155840.2:n.*1067_*1069del
NM_000218.2:c.*1067_*1069del , LRG_287t1:c.*1067_*1069del (KCNQ1)	NP_000209.2:n.*1067_*1069del
NM_181798.1:c.*1067_*1069del , LRG_287t2:c.*1067_*1069del (KCNQ1)	NP_861463.1:n.*1067_*1069del
NR_130721.1:n.778-8630_778-8628del (KCNQ1-AS1)
NM_000218.3:c.*1067_*1069del (KCNQ1) MANE Select	NP_000209.2:n.*1067_*1069del