Canonical Allele Identifier: CA216171224

Gene: KCNQ1 KCNQ1OT1

Linked Data

• dbSNP Id: rs984299639
• gnomAD v2: 11-2683589-ATTGT-A
• gnomAD v3: 11-2662359-ATTGT-A
• gnomAD v4: 11-2662359-ATTGT-A
• MyVariant Identifiers: chr11:g.2683590_2683593del (hg19) ; chr11:g.2662360_2662363del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662362_2662365del , CM000673.2:g.2662362_2662365del	GRCh38
NC_000011.9:g.2683592_2683595del , CM000673.1:g.2683592_2683595del	GRCh37
NC_000011.8:g.2640168_2640171del	NCBI36
NG_008935.1:g.222372_222375del , LRG_287:g.222372_222375del
NG_016178.2:g.42636_42639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1157+281_1157+284del (KCNQ1)	ENSP00000434560.2:n.1157+281_1157+284del
ENST00000646564.2:c.974+281_974+284del (KCNQ1)	ENSP00000495806.2:n.974+281_974+284del
ENST00000155840.12:c.1514+281_1514+284del (KCNQ1) MANE Select	ENSP00000155840.2:n.1514+281_1514+284del
ENST00000335475.6:c.1133+281_1133+284del (KCNQ1)	ENSP00000334497.5:n.1133+281_1133+284del
ENST00000646564.1:c.620+281_620+284del (KCNQ1)	ENSP00000495806.1:n.620+281_620+284del
ENST00000155840.9:c.1514+281_1514+284del (KCNQ1)	ENSP00000155840.2:n.1514+281_1514+284del
ENST00000335475.5:c.1133+281_1133+284del (KCNQ1)	ENSP00000334497.5:n.1133+281_1133+284del
NM_000218.2:c.1514+281_1514+284del , LRG_287t1:c.1514+281_1514+284del (KCNQ1)	NP_000209.2:n.1514+281_1514+284del
NM_181798.1:c.1133+281_1133+284del , LRG_287t2:c.1133+281_1133+284del (KCNQ1)	NP_861463.1:n.1133+281_1133+284del
NR_002728.3:n.37636_37639del (KCNQ1OT1)
NM_000218.3:c.1514+281_1514+284del (KCNQ1) MANE Select	NP_000209.2:n.1514+281_1514+284del