Canonical Allele Identifier: CA4566438

Gene: KCNH2

Linked Data

• dbSNP Id: rs765445116
• ExAC: 7:150655642 CG / C
• gnomAD v2: 7-150655642-CG-C
• gnomAD v4: 7-150958554-CG-C
• MyVariant Identifiers: chr7:g.150655643del (hg19) ; chr7:g.150958555del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958557del , CM000669.2:g.150958557del	GRCh38
NC_000007.13:g.150655645del , CM000669.1:g.150655645del	GRCh37
NC_000007.12:g.150286578del	NCBI36
NG_008916.1:g.24372del , LRG_288:g.24372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1306-53del
ENST00000262186.10:c.473-53del MANE Select	ENSP00000262186.5:n.473-53del
ENST00000262186.9:c.473-53del	ENSP00000262186.5:n.473-53del
ENST00000430723.4:c.235-163del	ENSP00000387657.4:n.235-163del
ENST00000532957.5:n.696-53del
NM_000238.3:c.473-53del , LRG_288t1:c.473-53del	NP_000229.1:n.473-53del
NM_172056.2:c.473-53del , LRG_288t2:c.473-53del	NP_742053.1:n.473-53del
XM_011516185.1:c.173-53del	XP_011514487.1:n.173-53del
XM_011516186.1:c.473-53del	XP_011514488.1:n.473-53del
XM_011516185.2:c.173-53del	XP_011514487.1:n.173-53del
XM_011516186.3:c.473-53del	XP_011514488.1:n.473-53del
XM_017012195.1:c.323-53del	XP_016867684.1:n.323-53del
XM_017012196.1:c.296-53del	XP_016867685.1:n.296-53del
NM_000238.4:c.473-53del MANE Select	NP_000229.1:n.473-53del