Canonical Allele Identifier: CA16618416

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 420260
• ClinVar RCV Id: RCV000481327
• dbSNP Id: rs1554428238
• MyVariant Identifiers: chr7:g.150656795_150656801dupCCACATC (hg19) ; chr7:g.150656794_150656795insCCACATC (hg19) ; chr7:g.150959707_150959713dupCCACATC (hg38) ; chr7:g.150959706_150959707insCCACATC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959708_150959714dup , CM000669.2:g.150959708_150959714dup	GRCh38
NC_000007.13:g.150656796_150656802dup , CM000669.1:g.150656796_150656802dup	GRCh37
NC_000007.12:g.150287729_150287735dup	NCBI36
NG_008916.1:g.23214_23220dup , LRG_288:g.23214_23220dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1164_1170dup
ENST00000262186.10:c.331_337dup MANE Select	ENSP00000262186.5:p.Val113GlyfsTer?
ENST00000262186.9:c.331_337dup	ENSP00000262186.5:p.Val113GlyfsTer?
ENST00000430723.4:c.154_160dup	ENSP00000387657.4:p.Val54GlyfsTer?
ENST00000532957.5:n.554_560dup
NM_000238.3:c.331_337dup , LRG_288t1:c.331_337dup	NP_000229.1:p.Val113GlyfsTer?
NM_172056.2:c.331_337dup , LRG_288t2:c.331_337dup	NP_742053.1:p.Val113GlyfsTer?
XM_011516185.1:c.31_37dup	XP_011514487.1:p.Val13GlyfsTer?
XM_011516186.1:c.331_337dup	XP_011514488.1:p.Val113GlyfsTer?
XM_011516185.2:c.31_37dup	XP_011514487.1:p.Val13GlyfsTer?
XM_011516186.3:c.331_337dup	XP_011514488.1:p.Val113GlyfsTer?
XM_017012195.1:c.181_187dup	XP_016867684.1:p.Val63GlyfsTer?
XM_017012196.1:c.154_160dup	XP_016867685.1:p.Val54GlyfsTer?
NM_000238.4:c.331_337dup MANE Select	NP_000229.1:p.Val113GlyfsTer?