Canonical Allele Identifier: CA16613558

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 405259
• ClinVar RCV Id: RCV000465460
• dbSNP Id: rs1554892886
• MyVariant Identifiers: chr11:g.2591873_2591875dupGTG (hg19) ; chr11:g.2570643_2570645dupGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570643_2570645dup , CM000673.2:g.2570643_2570645dup	GRCh38
NC_000011.9:g.2591873_2591875dup , CM000673.1:g.2591873_2591875dup	GRCh37
NC_000011.8:g.2548449_2548451dup	NCBI36
NG_008935.1:g.130653_130655dup , LRG_287:g.130653_130655dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.232_234dup	ENSP00000434560.2:p.Val78_Phe79insVal
ENST00000646564.2:c.478-12792_478-12790dup	ENSP00000495806.2:n.478-12792_478-12790du...
ENST00000155840.12:c.493_495dup MANE Select	ENSP00000155840.2:p.Val165_Phe166insVal
ENST00000335475.6:c.112_114dup	ENSP00000334497.5:p.Val38_Phe39insVal
ENST00000646564.1:c.124-12792_124-12790dup	ENSP00000495806.1:n.124-12792_124-12790du...
ENST00000155840.9:c.493_495dup	ENSP00000155840.2:p.Val165_Phe166insVal
ENST00000335475.5:c.112_114dup	ENSP00000334497.5:p.Val38_Phe39insVal
ENST00000496887.6:c.232_234dup	ENSP00000434560.1:p.Val78_Phe79insVal
NM_000218.2:c.493_495dup , LRG_287t1:c.493_495dup	NP_000209.2:p.Val165_Phe166insVal
NM_181798.1:c.112_114dup , LRG_287t2:c.112_114dup	NP_861463.1:p.Val38_Phe39insVal
NM_000218.3:c.493_495dup MANE Select	NP_000209.2:p.Val165_Phe166insVal