Canonical Allele Identifier: CA004897

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3121
• ClinVar RCV Id: RCV000003269 ; RCV000057528 ; RCV000171124 ; RCV000619686
• dbSNP Id: rs12720459
• COSMIC: COSM687668
• MyVariant Identifiers: chr11:g.2604765C>T (hg19) ; chr11:g.2583535C>T (hg38)
• PubMed: PMID:8528244 ; PMID:8818942 ; PMID:8872472 ; PMID:9386136 ; PMID:9570196 ; PMID:10376919 ; PMID:10973849 ; PMID:12402336 ; PMID:14678125 ; PMID:15028050 ; PMID:15051636 ; PMID:15234419 ; PMID:15840476 ; PMID:16155735 ; PMID:16246960 ; PMID:16627448 ; PMID:16922724 ; PMID:17470695 ; PMID:17984373 ; PMID:18308161 ; PMID:19716085 ; PMID:19841300 ; PMID:21810471 ; PMID:21854832 ; PMID:22095730 ; PMID:22581653 ; PMID:24705789 ; PMID:29194874

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583535C>T , CM000673.2:g.2583535C>T	GRCh38
NC_000011.9:g.2604765C>T , CM000673.1:g.2604765C>T	GRCh37
NC_000011.8:g.2561341C>T	NCBI36
NG_008935.1:g.143545C>T , LRG_287:g.143545C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.761C>T	ENSP00000434560.2:p.Ala254Val
ENST00000646564.2:c.578C>T	ENSP00000495806.2:p.Ala193Val
ENST00000155840.12:c.1022C>T MANE Select	ENSP00000155840.2:p.Ala341Val
ENST00000335475.6:c.641C>T	ENSP00000334497.5:p.Ala214Val
ENST00000646564.1:c.224C>T	ENSP00000495806.1:p.Ala75Val
ENST00000155840.9:c.1022C>T	ENSP00000155840.2:p.Ala341Val
ENST00000335475.5:c.641C>T	ENSP00000334497.5:p.Ala214Val
NM_000218.2:c.1022C>T , LRG_287t1:c.1022C>T	NP_000209.2:p.Ala341Val
NM_181798.1:c.641C>T , LRG_287t2:c.641C>T	NP_861463.1:p.Ala214Val
NM_000218.3:c.1022C>T MANE Select	NP_000209.2:p.Ala341Val