Canonical Allele Identifier: CA005867

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52989
• ClinVar RCV Id: RCV000045993 ; RCV000182246 ; RCV001841633 ; RCV002399405 ; RCV004017347
• dbSNP Id: rs397508096
• gnomAD v4: 11-2445251-C-G
• MyVariant Identifiers: chr11:g.2466481C>G (hg19) ; chr11:g.2445251C>G (hg38)
• PubMed: PMID:19841300

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445251C>G , CM000673.2:g.2445251C>G	GRCh38
NC_000011.9:g.2466481C>G , CM000673.1:g.2466481C>G	GRCh37
NC_000011.8:g.2423057C>G	NCBI36
NG_008935.1:g.5261C>G , LRG_287:g.5261C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.24-132C>G	ENSP00000434560.2:n.24-132C>G
ENST00000646564.2:c.153C>G	ENSP00000495806.2:p.Tyr51Ter
ENST00000155840.12:c.153C>G MANE Select	ENSP00000155840.2:p.Tyr51Ter
ENST00000155840.9:c.153C>G	ENSP00000155840.2:p.Tyr51Ter
ENST00000496887.6:c.24-132C>G	ENSP00000434560.1:n.24-132C>G
NM_000218.2:c.153C>G , LRG_287t1:c.153C>G	NP_000209.2:p.Tyr51Ter
NM_000218.3:c.153C>G MANE Select	NP_000209.2:p.Tyr51Ter