Canonical Allele Identifier: CA597109449

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1455898
• ClinVar RCV Id: RCV001970148 ; RCV003591905
• dbSNP Id: rs1221462654
• gnomAD v2: 11-2593302-G-GGA
• gnomAD v4: 11-2572072-G-GGA
• MyVariant Identifiers: chr11:g.2593302_2593303insGA (hg19) ; chr11:g.2572072_2572073insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572074_2572075dup , CM000673.2:g.2572074_2572075dup	GRCh38
NC_000011.9:g.2593304_2593305dup , CM000673.1:g.2593304_2593305dup	GRCh37
NC_000011.8:g.2549880_2549881dup	NCBI36
NG_008935.1:g.132084_132085dup , LRG_287:g.132084_132085dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.484_485dup	ENSP00000434560.2:p.Leu163GlyfsTer14
ENST00000646564.2:c.478-11361_478-11360dup	ENSP00000495806.2:n.478-11361_478-11360du...
ENST00000155840.12:c.745_746dup MANE Select	ENSP00000155840.2:p.Leu250GlyfsTer14
ENST00000335475.6:c.364_365dup	ENSP00000334497.5:p.Leu123GlyfsTer14
ENST00000646564.1:c.124-11361_124-11360dup	ENSP00000495806.1:n.124-11361_124-11360du...
ENST00000155840.9:c.745_746dup	ENSP00000155840.2:p.Leu250GlyfsTer14
ENST00000335475.5:c.364_365dup	ENSP00000334497.5:p.Leu123GlyfsTer14
ENST00000496887.6:c.484_485dup	ENSP00000434560.1:p.Leu163GlyfsTer14
NM_000218.2:c.745_746dup , LRG_287t1:c.745_746dup	NP_000209.2:p.Leu250GlyfsTer14
NM_181798.1:c.364_365dup , LRG_287t2:c.364_365dup	NP_861463.1:p.Leu123GlyfsTer14
NM_000218.3:c.745_746dup MANE Select	NP_000209.2:p.Leu250GlyfsTer14