Canonical Allele Identifier: CA2612006407

Gene: KCNQ1 KCNQ1OT1

Linked Data

• dbSNP Id: rs2133816762
• gnomAD v4: 11-2631430-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2631430_2631431insA , CM000673.2:g.2631430_2631431insA	GRCh38
NC_000011.9:g.2652660_2652661insA , CM000673.1:g.2652660_2652661insA	GRCh37
NC_000011.8:g.2609236_2609237insA	NCBI36
NG_008935.1:g.191440_191441insA , LRG_287:g.191440_191441insA
NG_016178.2:g.73568_73569insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1037-30531_1037-30530insA (KCNQ1)	ENSP00000434560.2:n.1037-30531_1037-30530insA
ENST00000646564.2:c.854-30531_854-30530insA (KCNQ1)	ENSP00000495806.2:n.854-30531_854-30530insA
ENST00000155840.12:c.1394-30531_1394-30530insA (KCNQ1) MANE Select	ENSP00000155840.2:n.1394-30531_1394-30530insA
ENST00000335475.6:c.1013-30531_1013-30530insA (KCNQ1)	ENSP00000334497.5:n.1013-30531_1013-30530insA
ENST00000646564.1:c.500-30531_500-30530insA (KCNQ1)	ENSP00000495806.1:n.500-30531_500-30530insA
ENST00000155840.9:c.1394-30531_1394-30530insA (KCNQ1)	ENSP00000155840.2:n.1394-30531_1394-30530insA
ENST00000335475.5:c.1013-30531_1013-30530insA (KCNQ1)	ENSP00000334497.5:n.1013-30531_1013-30530insA
NM_000218.2:c.1394-30531_1394-30530insA , LRG_287t1:c.1394-30531_1394-30530insA (KCNQ1)	NP_000209.2:n.1394-30531_1394-30530insA
NM_181798.1:c.1013-30531_1013-30530insA , LRG_287t2:c.1013-30531_1013-30530insA (KCNQ1)	NP_861463.1:n.1013-30531_1013-30530insA
NR_002728.3:n.68568_68569insT (KCNQ1OT1)
NM_000218.3:c.1394-30531_1394-30530insA (KCNQ1) MANE Select	NP_000209.2:n.1394-30531_1394-30530insA