Canonical Allele Identifier: CA006217

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53007
• ClinVar RCV Id: RCV000046016 ; RCV000057620 ; RCV000182217 ; RCV001841636 ; RCV002399407 ; RCV001258363
• dbSNP Id: rs199472805
• gnomAD v4: 11-2777000-T-C
• MyVariant Identifiers: chr11:g.2798230T>C (hg19) ; chr11:g.2777000T>C (hg38)
• PubMed: PMID:16414944 ; PMID:19716085 ; PMID:22429796 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2777000T>C , CM000673.2:g.2777000T>C	GRCh38
NC_000011.9:g.2798230T>C , CM000673.1:g.2798230T>C	GRCh37
NC_000011.8:g.2754806T>C	NCBI36
NG_008935.1:g.337010T>C , LRG_287:g.337010T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1343T>C	ENSP00000434560.2:p.Ile448Thr
ENST00000646564.2:c.1160T>C	ENSP00000495806.2:p.Ile387Thr
ENST00000155840.12:c.1700T>C MANE Select	ENSP00000155840.2:p.Ile567Thr
ENST00000335475.6:c.1319T>C	ENSP00000334497.5:p.Ile440Thr
ENST00000646564.1:c.806T>C	ENSP00000495806.1:p.Ile269Thr
ENST00000155840.9:c.1700T>C	ENSP00000155840.2:p.Ile567Thr
ENST00000335475.5:c.1319T>C	ENSP00000334497.5:p.Ile440Thr
NM_000218.2:c.1700T>C , LRG_287t1:c.1700T>C	NP_000209.2:p.Ile567Thr
NM_181798.1:c.1319T>C , LRG_287t2:c.1319T>C	NP_861463.1:p.Ile440Thr
NM_000218.3:c.1700T>C MANE Select	NP_000209.2:p.Ile567Thr