Canonical Allele Identifier: CA006328

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3138
• ClinVar RCV Id: RCV000003286 ; RCV000046026 ; RCV000057632 ; RCV000182221 ; RCV000619349 ; RCV003319300
• dbSNP Id: rs120074189
• gnomAD v4: 11-2778003-C-T
• MyVariant Identifiers: chr11:g.2799233C>T (hg19) ; chr11:g.2778003C>T (hg38)
• PubMed: PMID:9386136 ; PMID:9799083 ; PMID:10024302 ; PMID:11162126 ; PMID:12702160 ; PMID:15140888 ; PMID:15234419 ; PMID:15840476 ; PMID:17329207 ; PMID:17329209 ; PMID:18752142 ; PMID:19716085 ; PMID:19841300 ; PMID:19959132 ; PMID:20348026 ; PMID:20487114 ; PMID:22581653 ; PMID:22949429 ; PMID:24217263

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778003C>T , CM000673.2:g.2778003C>T	GRCh38
NC_000011.9:g.2799233C>T , CM000673.1:g.2799233C>T	GRCh37
NC_000011.8:g.2755809C>T	NCBI36
NG_008935.1:g.338013C>T , LRG_287:g.338013C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1403C>T	ENSP00000434560.2:p.Thr468Met
ENST00000646564.2:c.1220C>T	ENSP00000495806.2:p.Thr407Met
ENST00000155840.12:c.1760C>T MANE Select	ENSP00000155840.2:p.Thr587Met
ENST00000335475.6:c.1379C>T	ENSP00000334497.5:p.Thr460Met
ENST00000526095.2:c.164C>T	ENSP00000494939.1:p.Thr55Met
ENST00000646564.1:c.866C>T	ENSP00000495806.1:p.Thr289Met
ENST00000155840.9:c.1760C>T	ENSP00000155840.2:p.Thr587Met
ENST00000335475.5:c.1379C>T	ENSP00000334497.5:p.Thr460Met
ENST00000526095.1:n.267C>T
NM_000218.2:c.1760C>T , LRG_287t1:c.1760C>T	NP_000209.2:p.Thr587Met
NM_181798.1:c.1379C>T , LRG_287t2:c.1379C>T	NP_861463.1:p.Thr460Met
NM_000218.3:c.1760C>T MANE Select	NP_000209.2:p.Thr587Met