Canonical Allele Identifier: CA005255

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52955
• ClinVar RCV Id: RCV000045959 ; RCV000057551 ; RCV000182173 ; RCV000496023 ; RCV000617196
• dbSNP Id: rs199473411
• gnomAD v4: 11-2585275-C-T
• MyVariant Identifiers: chr11:g.2606505C>T (hg19) ; chr11:g.2585275C>T (hg38)
• PubMed: PMID:9024139 ; PMID:9693036 ; PMID:10090529 ; PMID:10220146 ; PMID:10973849 ; PMID:11668638 ; PMID:14678125 ; PMID:15466642 ; PMID:15840476 ; PMID:16556865 ; PMID:16937190 ; PMID:19716085 ; PMID:19841300 ; PMID:20196769 ; PMID:20541041 ; PMID:22581653 ; PMID:22949429 ; PMID:24357532 ; PMID:27231019

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585275C>T , CM000673.2:g.2585275C>T	GRCh38
NC_000011.9:g.2606505C>T , CM000673.1:g.2606505C>T	GRCh37
NC_000011.8:g.2563081C>T	NCBI36
NG_008935.1:g.145285C>T , LRG_287:g.145285C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1730C>T	ENSP00000434560.2:n.771+1730C>T
ENST00000646564.2:c.588+1730C>T	ENSP00000495806.2:n.588+1730C>T
ENST00000155840.12:c.1096C>T MANE Select	ENSP00000155840.2:p.Arg366Trp
ENST00000335475.6:c.715C>T	ENSP00000334497.5:p.Arg239Trp
ENST00000646564.1:c.234+1730C>T	ENSP00000495806.1:n.234+1730C>T
ENST00000155840.9:c.1096C>T	ENSP00000155840.2:p.Arg366Trp
ENST00000335475.5:c.715C>T	ENSP00000334497.5:p.Arg239Trp
NM_000218.2:c.1096C>T , LRG_287t1:c.1096C>T	NP_000209.2:p.Arg366Trp
NM_181798.1:c.715C>T , LRG_287t2:c.715C>T	NP_861463.1:p.Arg239Trp
NM_000218.3:c.1096C>T MANE Select	NP_000209.2:p.Arg366Trp