Canonical Allele Identifier: CA005943

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52994
• ClinVar RCV Id: RCV000046000 ; RCV000057599 ; RCV000182201 ; RCV004017349
• dbSNP Id: rs199472790
• gnomAD v4: 11-2768900-T-G
• MyVariant Identifiers: chr11:g.2790130T>G (hg19) ; chr11:g.2768900T>G (hg38)
• PubMed: PMID:14678125 ; PMID:15466642 ; PMID:15840476 ; PMID:17470695 ; PMID:19716085 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768900T>G , CM000673.2:g.2768900T>G	GRCh38
NC_000011.9:g.2790130T>G , CM000673.1:g.2790130T>G	GRCh37
NC_000011.8:g.2746706T>G	NCBI36
NG_008935.1:g.328910T>G , LRG_287:g.328910T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1214T>G	ENSP00000434560.2:p.Val405Gly
ENST00000646564.2:c.1031T>G	ENSP00000495806.2:p.Val344Gly
ENST00000155840.12:c.1571T>G MANE Select	ENSP00000155840.2:p.Val524Gly
ENST00000335475.6:c.1190T>G	ENSP00000334497.5:p.Val397Gly
ENST00000646564.1:c.677T>G	ENSP00000495806.1:p.Val226Gly
ENST00000155840.9:c.1571T>G	ENSP00000155840.2:p.Val524Gly
ENST00000335475.5:c.1190T>G	ENSP00000334497.5:p.Val397Gly
NM_000218.2:c.1571T>G , LRG_287t1:c.1571T>G	NP_000209.2:p.Val524Gly
NM_181798.1:c.1190T>G , LRG_287t2:c.1190T>G	NP_861463.1:p.Val397Gly
NM_000218.3:c.1571T>G MANE Select	NP_000209.2:p.Val524Gly