Canonical Allele Identifier: CA1139661777

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 966649
• ClinVar RCV Id: RCV001241380
• dbSNP Id: rs1848612978

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587648del , CM000673.2:g.2587648del	GRCh38
NC_000011.9:g.2608878del , CM000673.1:g.2608878del	GRCh37
NC_000011.8:g.2565454del	NCBI36
NG_008935.1:g.147658del , LRG_287:g.147658del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.850del	ENSP00000434560.2:p.His284ThrfsTer16
ENST00000646564.2:c.667del	ENSP00000495806.2:p.His223ThrfsTer16
ENST00000155840.12:c.1207del MANE Select	ENSP00000155840.2:p.His403ThrfsTer16
ENST00000335475.6:c.826del	ENSP00000334497.5:p.His276ThrfsTer16
ENST00000646564.1:c.313del	ENSP00000495806.1:p.His105ThrfsTer16
ENST00000155840.9:c.1207del	ENSP00000155840.2:p.His403ThrfsTer16
ENST00000335475.5:c.826del	ENSP00000334497.5:p.His276ThrfsTer16
NM_000218.2:c.1207del , LRG_287t1:c.1207del	NP_000209.2:p.His403ThrfsTer16
NM_181798.1:c.826del , LRG_287t2:c.826del	NP_861463.1:p.His276ThrfsTer16
NM_000218.3:c.1207del MANE Select	NP_000209.2:p.His403ThrfsTer16