Canonical Allele Identifier: CA2612011916

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• gnomAD v4: 11-2848375-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848380dup , CM000673.2:g.2848380dup	GRCh38
NC_000011.9:g.2869610dup , CM000673.1:g.2869610dup	GRCh37
NC_000011.8:g.2826186dup	NCBI36
NG_008935.1:g.408390dup , LRG_287:g.408390dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*377dup (KCNQ1)	ENSP00000434560.2:n.*377dup
ENST00000155840.12:c.*377dup (KCNQ1) MANE Select	ENSP00000155840.2:n.*377dup
ENST00000335475.6:c.*377dup (KCNQ1)	ENSP00000334497.5:n.*377dup
ENST00000155840.9:c.*377dup (KCNQ1)	ENSP00000155840.2:n.*377dup
ENST00000526095.1:n.915dup (KCNQ1)
NM_000218.2:c.*377dup , LRG_287t1:c.*377dup (KCNQ1)	NP_000209.2:n.*377dup
NM_181798.1:c.*377dup , LRG_287t2:c.*377dup (KCNQ1)	NP_861463.1:n.*377dup
NR_130721.1:n.778-7934dup (KCNQ1-AS1)
NM_000218.3:c.*377dup (KCNQ1) MANE Select	NP_000209.2:n.*377dup