Canonical Allele Identifier: CA004889

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67005
• ClinVar RCV Id: RCV000057527 ; RCV000182145 ; RCV002513746 ; RCV003333023
• dbSNP Id: rs12720459
• MyVariant Identifiers: chr11:g.2604765C>G (hg19) ; chr11:g.2583535C>G (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583535C>G , CM000673.2:g.2583535C>G	GRCh38
NC_000011.9:g.2604765C>G , CM000673.1:g.2604765C>G	GRCh37
NC_000011.8:g.2561341C>G	NCBI36
NG_008935.1:g.143545C>G , LRG_287:g.143545C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.761C>G	ENSP00000434560.2:p.Ala254Gly
ENST00000646564.2:c.578C>G	ENSP00000495806.2:p.Ala193Gly
ENST00000155840.12:c.1022C>G MANE Select	ENSP00000155840.2:p.Ala341Gly
ENST00000335475.6:c.641C>G	ENSP00000334497.5:p.Ala214Gly
ENST00000646564.1:c.224C>G	ENSP00000495806.1:p.Ala75Gly
ENST00000155840.9:c.1022C>G	ENSP00000155840.2:p.Ala341Gly
ENST00000335475.5:c.641C>G	ENSP00000334497.5:p.Ala214Gly
NM_000218.2:c.1022C>G , LRG_287t1:c.1022C>G	NP_000209.2:p.Ala341Gly
NM_181798.1:c.641C>G , LRG_287t2:c.641C>G	NP_861463.1:p.Ala214Gly
NM_000218.3:c.1022C>G MANE Select	NP_000209.2:p.Ala341Gly