Canonical Allele Identifier: CA5822091

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• dbSNP Id: rs772427083
• ExAC: 11:2869605 AGGGGGCTTCCTGAGGGGAGAC / A
• gnomAD v2: 11-2869605-AGGGGGCTTCCTGAGGGGAGAC-A
• gnomAD v4: 11-2848375-AGGGGGCTTCCTGAGGGGAGAC-A
• MyVariant Identifiers: chr11:g.2869606_2869626del (hg19) ; chr11:g.2848376_2848396del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848376_2848396del , CM000673.2:g.2848376_2848396del	GRCh38
NC_000011.9:g.2869606_2869626del , CM000673.1:g.2869606_2869626del	GRCh37
NC_000011.8:g.2826182_2826202del	NCBI36
NG_008935.1:g.408386_408406del , LRG_287:g.408386_408406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*373_*393del (KCNQ1)	ENSP00000434560.2:n.*373_*393del
ENST00000155840.12:c.*373_*393del (KCNQ1) MANE Select	ENSP00000155840.2:n.*373_*393del
ENST00000335475.6:c.*373_*393del (KCNQ1)	ENSP00000334497.5:n.*373_*393del
ENST00000155840.9:c.*373_*393del (KCNQ1)	ENSP00000155840.2:n.*373_*393del
ENST00000526095.1:n.911_931del (KCNQ1)
NM_000218.2:c.*373_*393del , LRG_287t1:c.*373_*393del (KCNQ1)	NP_000209.2:n.*373_*393del
NM_181798.1:c.*373_*393del , LRG_287t2:c.*373_*393del (KCNQ1)	NP_861463.1:n.*373_*393del
NR_130721.1:n.778-7954_778-7934del (KCNQ1-AS1)
NM_000218.3:c.*373_*393del (KCNQ1) MANE Select	NP_000209.2:n.*373_*393del