Canonical Allele Identifier: CA005409

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52965
• ClinVar RCV Id: RCV000577305
• dbSNP Id: rs397508079
• MyVariant Identifiers: chr11:g.2608820dupT (hg19) ; chr11:g.2587590dupT (hg38)
• PubMed: PMID:21380488

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587590dup , CM000673.2:g.2587590dup	GRCh38
NC_000011.9:g.2608820dup , CM000673.1:g.2608820dup	GRCh37
NC_000011.8:g.2565396dup	NCBI36
NG_008935.1:g.147600dup , LRG_287:g.147600dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.792dup	ENSP00000434560.2:p.Ala265CysfsTer?
ENST00000646564.2:c.609dup	ENSP00000495806.2:p.Ala204CysfsTer?
ENST00000155840.12:c.1149dup MANE Select	ENSP00000155840.2:p.Ala384CysfsTer?
ENST00000335475.6:c.768dup	ENSP00000334497.5:p.Ala257CysfsTer?
ENST00000646564.1:c.255dup	ENSP00000495806.1:p.Ala86CysfsTer?
ENST00000155840.9:c.1149dup	ENSP00000155840.2:p.Ala384CysfsTer?
ENST00000335475.5:c.768dup	ENSP00000334497.5:p.Ala257CysfsTer?
NM_000218.2:c.1149dup , LRG_287t1:c.1149dup	NP_000209.2:p.Ala384CysfsTer?
NM_181798.1:c.768dup , LRG_287t2:c.768dup	NP_861463.1:p.Ala257CysfsTer?
NM_000218.3:c.1149dup MANE Select	NP_000209.2:p.Ala384CysfsTer?