Canonical Allele Identifier: CA004863

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52931
• ClinVar RCV Id: RCV000003277
• dbSNP Id: rs397508069
• MyVariant Identifiers: chr11:g.2604761_2604763del (hg19) ; chr11:g.2583531_2583533del (hg38)
• PubMed: PMID:16922724

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583531_2583533del , CM000673.2:g.2583531_2583533del	GRCh38
NC_000011.9:g.2604761_2604763del , CM000673.1:g.2604761_2604763del	GRCh37
NC_000011.8:g.2561337_2561339del	NCBI36
NG_008935.1:g.143541_143543del , LRG_287:g.143541_143543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.757_759del	ENSP00000434560.2:p.Phe253del
ENST00000646564.2:c.574_576del	ENSP00000495806.2:p.Phe192del
ENST00000155840.12:c.1018_1020del MANE Select	ENSP00000155840.2:p.Phe340del
ENST00000335475.6:c.637_639del	ENSP00000334497.5:p.Phe213del
ENST00000646564.1:c.220_222del	ENSP00000495806.1:p.Phe74del
ENST00000155840.9:c.1018_1020del	ENSP00000155840.2:p.Phe340del
ENST00000335475.5:c.637_639del	ENSP00000334497.5:p.Phe213del
NM_000218.2:c.1018_1020del , LRG_287t1:c.1018_1020del	NP_000209.2:p.Phe340del
NM_181798.1:c.637_639del , LRG_287t2:c.637_639del	NP_861463.1:p.Phe213del
NM_000218.3:c.1018_1020del MANE Select	NP_000209.2:p.Phe340del