Canonical Allele Identifier: CA2739276107

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2811762
• ClinVar RCV Id: RCV003647685

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585274_2585275delinsAT , CM000673.2:g.2585274_2585275delinsAT	GRCh38
NC_000011.9:g.2606504_2606505delinsAT , CM000673.1:g.2606504_2606505delinsAT	GRCh37
NC_000011.8:g.2563080_2563081delinsAT	NCBI36
NG_008935.1:g.145284_145285delinsAT , LRG_287:g.145284_145285delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.771+1729_771+1730delinsAT	ENSP00000434560.2:n.771+1729_771+1730deli...
ENST00000646564.2:c.588+1729_588+1730delinsAT	ENSP00000495806.2:n.588+1729_588+1730deli...
ENST00000155840.12:c.1095_1096delinsAT MANE Select	ENSP00000155840.2:p.Asn365_Arg366delinsLy...
ENST00000335475.6:c.714_715delinsAT	ENSP00000334497.5:p.Asn238_Arg239delinsLy...
ENST00000646564.1:c.234+1729_234+1730delinsAT	ENSP00000495806.1:n.234+1729_234+1730deli...
ENST00000155840.9:c.1095_1096delinsAT	ENSP00000155840.2:p.Asn365_Arg366delinsLy...
ENST00000335475.5:c.714_715delinsAT	ENSP00000334497.5:p.Asn238_Arg239delinsLy...
NM_000218.2:c.1095_1096delinsAT , LRG_287t1:c.1095_1096delinsAT	NP_000209.2:p.Asn365_Arg366delinsLysTrp
NM_181798.1:c.714_715delinsAT , LRG_287t2:c.714_715delinsAT	NP_861463.1:p.Asn238_Arg239delinsLysTrp
NM_000218.3:c.1095_1096delinsAT MANE Select	NP_000209.2:p.Asn365_Arg366delinsLysTrp