Canonical Allele Identifier: CA2580082627

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2009452
• ClinVar RCV Id: RCV002838428
• gnomAD v4: 11-2768851-GAACACCATCGGGCCACCATT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768854_2768873del , CM000673.2:g.2768854_2768873del	GRCh38
NC_000011.9:g.2790084_2790103del , CM000673.1:g.2790084_2790103del	GRCh37
NC_000011.8:g.2746660_2746679del	NCBI36
NG_008935.1:g.328864_328883del , LRG_287:g.328864_328883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1168_1187del	ENSP00000434560.2:p.His390GlyfsTer28
ENST00000646564.2:c.985_1004del	ENSP00000495806.2:p.His329GlyfsTer28
ENST00000155840.12:c.1525_1544del MANE Select	ENSP00000155840.2:p.His509GlyfsTer28
ENST00000335475.6:c.1144_1163del	ENSP00000334497.5:p.His382GlyfsTer28
ENST00000646564.1:c.631_650del	ENSP00000495806.1:p.His211GlyfsTer28
ENST00000155840.9:c.1525_1544del	ENSP00000155840.2:p.His509GlyfsTer28
ENST00000335475.5:c.1144_1163del	ENSP00000334497.5:p.His382GlyfsTer28
NM_000218.2:c.1525_1544del , LRG_287t1:c.1525_1544del	NP_000209.2:p.His509GlyfsTer28
NM_181798.1:c.1144_1163del , LRG_287t2:c.1144_1163del	NP_861463.1:p.His382GlyfsTer28
NM_000218.3:c.1525_1544del MANE Select	NP_000209.2:p.His509GlyfsTer28