Canonical Allele Identifier: CA216345887

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• dbSNP Id: rs985403091
• gnomAD v4: 11-2848403-A-AC
• MyVariant Identifiers: chr11:g.2869633_2869634insC (hg19) ; chr11:g.2848403_2848404insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848407dup , CM000673.2:g.2848407dup	GRCh38
NC_000011.9:g.2869637dup , CM000673.1:g.2869637dup	GRCh37
NC_000011.8:g.2826213dup	NCBI36
NG_008935.1:g.408417dup , LRG_287:g.408417dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.*404dup (KCNQ1)	ENSP00000434560.2:n.*404dup
ENST00000155840.12:c.*404dup (KCNQ1) MANE Select	ENSP00000155840.2:n.*404dup
ENST00000335475.6:c.*404dup (KCNQ1)	ENSP00000334497.5:n.*404dup
ENST00000155840.9:c.*404dup (KCNQ1)	ENSP00000155840.2:n.*404dup
ENST00000526095.1:n.942dup (KCNQ1)
NM_000218.2:c.*404dup , LRG_287t1:c.*404dup (KCNQ1)	NP_000209.2:n.*404dup
NM_181798.1:c.*404dup , LRG_287t2:c.*404dup (KCNQ1)	NP_861463.1:n.*404dup
NR_130721.1:n.778-7962dup (KCNQ1-AS1)
NM_000218.3:c.*404dup (KCNQ1) MANE Select	NP_000209.2:n.*404dup