Canonical Allele Identifier: CA658761346

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 503735
• ClinVar RCV Id: RCV000598913 ; RCV000631615
• dbSNP Id: rs1554430908
• MyVariant Identifiers: chr7:g.150671855_150671885del (hg19) ; chr7:g.150974767_150974797del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974773_150974803del , CM000669.2:g.150974773_150974803del	GRCh38
NC_000007.13:g.150671861_150671891del , CM000669.1:g.150671861_150671891del	GRCh37
NC_000007.12:g.150302794_150302824del	NCBI36
NG_008916.1:g.8130_8160del , LRG_288:g.8130_8160del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.221_251del MANE Select	ENSP00000262186.5:p.Thr74ArgfsTer?
ENST00000262186.9:c.221_251del	ENSP00000262186.5:p.Thr74ArgfsTer?
ENST00000430723.4:c.44_74del	ENSP00000387657.4:p.Thr15ArgfsTer?
ENST00000532957.5:n.444_474del
NM_000238.3:c.221_251del , LRG_288t1:c.221_251del	NP_000229.1:p.Thr74ArgfsTer?
NM_172056.2:c.221_251del , LRG_288t2:c.221_251del	NP_742053.1:p.Thr74ArgfsTer?
XM_011516186.1:c.221_251del	XP_011514488.1:p.Thr74ArgfsTer?
XM_011516186.3:c.221_251del	XP_011514488.1:p.Thr74ArgfsTer?
XM_017012196.1:c.44_74del	XP_016867685.1:p.Thr15ArgfsTer?
NM_000238.4:c.221_251del MANE Select	NP_000229.1:p.Thr74ArgfsTer?