Canonical Allele Identifier: CA2612007111

Gene: KCNQ1 KCNQ1OT1

Linked Data

• gnomAD v4: 11-2662312-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662314del , CM000673.2:g.2662314del	GRCh38
NC_000011.9:g.2683544del , CM000673.1:g.2683544del	GRCh37
NC_000011.8:g.2640120del	NCBI36
NG_008935.1:g.222324del , LRG_287:g.222324del
NG_016178.2:g.42686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1157+233del (KCNQ1)	ENSP00000434560.2:n.1157+233del
ENST00000646564.2:c.974+233del (KCNQ1)	ENSP00000495806.2:n.974+233del
ENST00000155840.12:c.1514+233del (KCNQ1) MANE Select	ENSP00000155840.2:n.1514+233del
ENST00000335475.6:c.1133+233del (KCNQ1)	ENSP00000334497.5:n.1133+233del
ENST00000646564.1:c.620+233del (KCNQ1)	ENSP00000495806.1:n.620+233del
ENST00000155840.9:c.1514+233del (KCNQ1)	ENSP00000155840.2:n.1514+233del
ENST00000335475.5:c.1133+233del (KCNQ1)	ENSP00000334497.5:n.1133+233del
NM_000218.2:c.1514+233del , LRG_287t1:c.1514+233del (KCNQ1)	NP_000209.2:n.1514+233del
NM_181798.1:c.1133+233del , LRG_287t2:c.1133+233del (KCNQ1)	NP_861463.1:n.1133+233del
NR_002728.3:n.37686del (KCNQ1OT1)
NM_000218.3:c.1514+233del (KCNQ1) MANE Select	NP_000209.2:n.1514+233del