Canonical Allele Identifier: CA008955

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200620
• ClinVar RCV Id: RCV000181967 ; RCV001852295
• dbSNP Id: rs794728429
• gnomAD v4: 7-150958089-GC-G
• MyVariant Identifiers: chr7:g.150655178del (hg19) ; chr7:g.150958090del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958090del , CM000669.2:g.150958090del	GRCh38
NC_000007.13:g.150655178del , CM000669.1:g.150655178del	GRCh37
NC_000007.12:g.150286111del	NCBI36
NG_008916.1:g.24837del , LRG_288:g.24837del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1718del
ENST00000262186.10:c.885del MANE Select	ENSP00000262186.5:p.Leu296CysfsTer?
ENST00000262186.9:c.885del	ENSP00000262186.5:p.Leu296CysfsTer?
ENST00000430723.4:c.537del	ENSP00000387657.4:p.Leu180CysfsTer?
ENST00000532957.5:n.1108del
NM_000238.3:c.885del , LRG_288t1:c.885del	NP_000229.1:p.Leu296CysfsTer?
NM_172056.2:c.885del , LRG_288t2:c.885del	NP_742053.1:p.Leu296CysfsTer?
XM_011516185.1:c.585del	XP_011514487.1:p.Leu196CysfsTer?
XM_011516186.1:c.885del	XP_011514488.1:p.Leu296CysfsTer?
XM_011516185.2:c.585del	XP_011514487.1:p.Leu196CysfsTer?
XM_011516186.3:c.885del	XP_011514488.1:p.Leu296CysfsTer?
XM_017012195.1:c.735del	XP_016867684.1:p.Leu246CysfsTer?
XM_017012196.1:c.708del	XP_016867685.1:p.Leu237CysfsTer?
NM_000238.4:c.885del MANE Select	NP_000229.1:p.Leu296CysfsTer?