Canonical Allele Identifier: CA004923

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52933
• ClinVar RCV Id: RCV000057530 ; RCV001387951 ; RCV003362679
• dbSNP Id: rs199472762
• COSMIC: COSM4032157 ; COSM4032158
• MyVariant Identifiers: chr11:g.2604770C>T (hg19) ; chr11:g.2583540C>T (hg38)
• PubMed: PMID:15466642 ; PMID:15511625 ; PMID:15840476 ; PMID:17470695 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583540C>T , CM000673.2:g.2583540C>T	GRCh38
NC_000011.9:g.2604770C>T , CM000673.1:g.2604770C>T	GRCh37
NC_000011.8:g.2561346C>T	NCBI36
NG_008935.1:g.143550C>T , LRG_287:g.143550C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.766C>T	ENSP00000434560.2:p.Pro256Ser
ENST00000646564.2:c.583C>T	ENSP00000495806.2:p.Pro195Ser
ENST00000155840.12:c.1027C>T MANE Select	ENSP00000155840.2:p.Pro343Ser
ENST00000335475.6:c.646C>T	ENSP00000334497.5:p.Pro216Ser
ENST00000646564.1:c.229C>T	ENSP00000495806.1:p.Pro77Ser
ENST00000155840.9:c.1027C>T	ENSP00000155840.2:p.Pro343Ser
ENST00000335475.5:c.646C>T	ENSP00000334497.5:p.Pro216Ser
NM_000218.2:c.1027C>T , LRG_287t1:c.1027C>T	NP_000209.2:p.Pro343Ser
NM_181798.1:c.646C>T , LRG_287t2:c.646C>T	NP_861463.1:p.Pro216Ser
NM_000218.3:c.1027C>T MANE Select	NP_000209.2:p.Pro343Ser