Canonical Allele Identifier: CA005505

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52972
• ClinVar RCV Id: RCV000253347 ; RCV000182279 ; RCV001841627 ; RCV001213769
• dbSNP Id: rs397508082
• ExAC: 11:2608866 G / GC
• gnomAD v2: 11-2608866-G-GC
• gnomAD v3: 11-2587636-G-GC
• gnomAD v4: 11-2587636-G-GC
• MyVariant Identifiers: chr11:g.2608872dupC (hg19) ; chr11:g.2608867_2608868insC (hg19) ; chr11:g.2608866_2608867insC (hg19) ; chr11:g.2587642dupC (hg38) ; chr11:g.2587636_2587637insC (hg38)
• PubMed: PMID:15840476 ; PMID:17470695 ; PMID:22995991 ; PMID:23631430 ; PMID:24357532

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587642dup , CM000673.2:g.2587642dup	GRCh38
NC_000011.9:g.2608872dup , CM000673.1:g.2608872dup	GRCh37
NC_000011.8:g.2565448dup	NCBI36
NG_008935.1:g.147652dup , LRG_287:g.147652dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.844dup	ENSP00000434560.2:p.Arg282ProfsTer?
ENST00000646564.2:c.661dup	ENSP00000495806.2:p.Arg221ProfsTer?
ENST00000155840.12:c.1201dup MANE Select	ENSP00000155840.2:p.Arg401ProfsTer?
ENST00000335475.6:c.820dup	ENSP00000334497.5:p.Arg274ProfsTer?
ENST00000646564.1:c.307dup	ENSP00000495806.1:p.Arg103ProfsTer?
ENST00000155840.9:c.1201dup	ENSP00000155840.2:p.Arg401ProfsTer?
ENST00000335475.5:c.820dup	ENSP00000334497.5:p.Arg274ProfsTer?
NM_000218.2:c.1201dup , LRG_287t1:c.1201dup	NP_000209.2:p.Arg401ProfsTer?
NM_181798.1:c.820dup , LRG_287t2:c.820dup	NP_861463.1:p.Arg274ProfsTer?
NM_000218.3:c.1201dup MANE Select	NP_000209.2:p.Arg401ProfsTer?