Canonical Allele Identifier: CA008383

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53114
• ClinVar RCV Id: RCV000182333 ; RCV000239635 ; RCV000678811 ; RCV001209649
• dbSNP Id: rs397508127
• MyVariant Identifiers: chr11:g.2594123_2594125del (hg19) ; chr11:g.2572893_2572895del (hg38)
• PubMed: PMID:27485560

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572893_2572895del , CM000673.2:g.2572893_2572895del	GRCh38
NC_000011.9:g.2594123_2594125del , CM000673.1:g.2594123_2594125del	GRCh37
NC_000011.8:g.2550699_2550701del	NCBI36
NG_008935.1:g.132903_132905del , LRG_287:g.132903_132905del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.567_569del	ENSP00000434560.2:p.Ser190del
ENST00000646564.2:c.478-10542_478-10540del	ENSP00000495806.2:n.478-10542_478-10540de...
ENST00000155840.12:c.828_830del MANE Select	ENSP00000155840.2:p.Ser277del
ENST00000335475.6:c.447_449del	ENSP00000334497.5:p.Ser150del
ENST00000646564.1:c.124-10542_124-10540del	ENSP00000495806.1:n.124-10542_124-10540de...
ENST00000155840.9:c.828_830del	ENSP00000155840.2:p.Ser277del
ENST00000335475.5:c.447_449del	ENSP00000334497.5:p.Ser150del
ENST00000496887.6:c.567_569del	ENSP00000434560.1:p.Ser190del
NM_000218.2:c.828_830del , LRG_287t1:c.828_830del	NP_000209.2:p.Ser277del
NM_181798.1:c.447_449del , LRG_287t2:c.447_449del	NP_861463.1:p.Ser150del
NM_000218.3:c.828_830del MANE Select	NP_000209.2:p.Ser277del