Canonical Allele Identifier: CA675197694

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1428996337
• gnomAD v4: 11-2776920-AGAC-A
• MyVariant Identifiers: chr11:g.2798151_2798153del (hg19) ; chr11:g.2776921_2776923del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776924_2776926del , CM000673.2:g.2776924_2776926del	GRCh38
NC_000011.9:g.2798154_2798156del , CM000673.1:g.2798154_2798156del	GRCh37
NC_000011.8:g.2754730_2754732del	NCBI36
NG_008935.1:g.336934_336936del , LRG_287:g.336934_336936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1329-62_1329-60del	ENSP00000434560.2:n.1329-62_1329-60del
ENST00000646564.2:c.1146-62_1146-60del	ENSP00000495806.2:n.1146-62_1146-60del
ENST00000155840.12:c.1686-62_1686-60del MANE Select	ENSP00000155840.2:n.1686-62_1686-60del
ENST00000335475.6:c.1305-62_1305-60del	ENSP00000334497.5:n.1305-62_1305-60del
ENST00000646564.1:c.792-62_792-60del	ENSP00000495806.1:n.792-62_792-60del
ENST00000155840.9:c.1686-62_1686-60del	ENSP00000155840.2:n.1686-62_1686-60del
ENST00000335475.5:c.1305-62_1305-60del	ENSP00000334497.5:n.1305-62_1305-60del
NM_000218.2:c.1686-62_1686-60del , LRG_287t1:c.1686-62_1686-60del	NP_000209.2:n.1686-62_1686-60del
NM_181798.1:c.1305-62_1305-60del , LRG_287t2:c.1305-62_1305-60del	NP_861463.1:n.1305-62_1305-60del
NM_000218.3:c.1686-62_1686-60del MANE Select	NP_000209.2:n.1686-62_1686-60del