Canonical Allele Identifier: CA1948349990

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• dbSNP Id: rs1848388266
• gnomAD v4: 11-2848445-A-AGGCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848452_2848456dup , CM000673.2:g.2848452_2848456dup	GRCh38
NC_000011.9:g.2869682_2869686dup , CM000673.1:g.2869682_2869686dup	GRCh37
NC_000011.8:g.2826258_2826262dup	NCBI36
NG_008935.1:g.408462_408466dup , LRG_287:g.408462_408466dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*449_*453dup (KCNQ1)	ENSP00000434560.2:n.*449_*453dup
ENST00000155840.12:c.*449_*453dup (KCNQ1) MANE Select	ENSP00000155840.2:n.*449_*453dup
ENST00000335475.6:c.*449_*453dup (KCNQ1)	ENSP00000334497.5:n.*449_*453dup
ENST00000155840.9:c.*449_*453dup (KCNQ1)	ENSP00000155840.2:n.*449_*453dup
ENST00000526095.1:n.987_991dup (KCNQ1)
NM_000218.2:c.*449_*453dup , LRG_287t1:c.*449_*453dup (KCNQ1)	NP_000209.2:n.*449_*453dup
NM_181798.1:c.*449_*453dup , LRG_287t2:c.*449_*453dup (KCNQ1)	NP_861463.1:n.*449_*453dup
NR_130721.1:n.778-8008_778-8004dup (KCNQ1-AS1)
NM_000218.3:c.*449_*453dup (KCNQ1) MANE Select	NP_000209.2:n.*449_*453dup