Canonical Allele Identifier: CA005943
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 52994
ClinVar RCV Id: RCV000046000 RCV000057599 RCV000182201
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
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'