Canonical Allele Identifier: CA675121904

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1336094668
• MyVariant Identifiers: chr11:g.2723681_2723682del (hg19) ; chr11:g.2702451_2702452del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2702452_2702453del , CM000673.2:g.2702452_2702453del	GRCh38
NC_000011.9:g.2723682_2723683del , CM000673.1:g.2723682_2723683del	GRCh37
NC_000011.8:g.2680258_2680259del	NCBI36
NG_008935.1:g.262462_262463del , LRG_287:g.262462_262463del
NG_016178.2:g.2547_2548del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1157+40371_1157+40372del	ENSP00000434560.2:n.1157+40371_1157+40372del
ENST00000646564.2:c.974+40371_974+40372del	ENSP00000495806.2:n.974+40371_974+40372del
ENST00000155840.12:c.1514+40371_1514+40372del MANE Select	ENSP00000155840.2:n.1514+40371_1514+40372del
ENST00000335475.6:c.1133+40371_1133+40372del	ENSP00000334497.5:n.1133+40371_1133+40372del
ENST00000646564.1:c.620+40371_620+40372del	ENSP00000495806.1:n.620+40371_620+40372del
ENST00000155840.9:c.1514+40371_1514+40372del	ENSP00000155840.2:n.1514+40371_1514+40372del
ENST00000335475.5:c.1133+40371_1133+40372del	ENSP00000334497.5:n.1133+40371_1133+40372del
NM_000218.2:c.1514+40371_1514+40372del , LRG_287t1:c.1514+40371_1514+40372del	NP_000209.2:n.1514+40371_1514+40372del
NM_181798.1:c.1133+40371_1133+40372del , LRG_287t2:c.1133+40371_1133+40372del	NP_861463.1:n.1133+40371_1133+40372del
NM_000218.3:c.1514+40371_1514+40372del MANE Select	NP_000209.2:n.1514+40371_1514+40372del