Canonical Allele Identifier: CA305978

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200885
• ClinVar RCV Id: RCV000182276 ; RCV000631646
• dbSNP Id: rs794728559
• MyVariant Identifiers: chr11:g.2604772_2604774dupAGC (hg19) ; chr11:g.2583542_2583544dupAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583542_2583544dup , CM000673.2:g.2583542_2583544dup	GRCh38
NC_000011.9:g.2604772_2604774dup , CM000673.1:g.2604772_2604774dup	GRCh37
NC_000011.8:g.2561348_2561350dup	NCBI36
NG_008935.1:g.143552_143554dup , LRG_287:g.143552_143554dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.768_770dup	ENSP00000434560.2:p.Ala257_Thr258insAla
ENST00000646564.2:c.585_587dup	ENSP00000495806.2:p.Ala196_Thr197insAla
ENST00000155840.12:c.1029_1031dup MANE Select	ENSP00000155840.2:p.Ala344_Gly345insAla
ENST00000335475.6:c.648_650dup	ENSP00000334497.5:p.Ala217_Gly218insAla
ENST00000646564.1:c.231_233dup	ENSP00000495806.1:p.Ala78_Thr79insAla
ENST00000155840.9:c.1029_1031dup	ENSP00000155840.2:p.Ala344_Gly345insAla
ENST00000335475.5:c.648_650dup	ENSP00000334497.5:p.Ala217_Gly218insAla
NM_000218.2:c.1029_1031dup , LRG_287t1:c.1029_1031dup	NP_000209.2:p.Ala344_Gly345insAla
NM_181798.1:c.648_650dup , LRG_287t2:c.648_650dup	NP_861463.1:p.Ala217_Gly218insAla
NM_000218.3:c.1029_1031dup MANE Select	NP_000209.2:p.Ala344_Gly345insAla