Canonical Allele Identifier: CA2685608358

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958337-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958339del , CM000669.2:g.150958339del	GRCh38
NC_000007.13:g.150655427del , CM000669.1:g.150655427del	GRCh37
NC_000007.12:g.150286360del	NCBI36
NG_008916.1:g.24589del , LRG_288:g.24589del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1470del
ENST00000262186.10:c.637del MANE Select	ENSP00000262186.5:p.Asp213ThrfsTer3
ENST00000262186.9:c.637del	ENSP00000262186.5:p.Asp213ThrfsTer3
ENST00000430723.4:c.289del	ENSP00000387657.4:p.Asp97ThrfsTer3
ENST00000532957.5:n.860del
NM_000238.3:c.637del , LRG_288t1:c.637del	NP_000229.1:p.Asp213ThrfsTer3
NM_172056.2:c.637del , LRG_288t2:c.637del	NP_742053.1:p.Asp213ThrfsTer3
XM_011516185.1:c.337del	XP_011514487.1:p.Asp113ThrfsTer3
XM_011516186.1:c.637del	XP_011514488.1:p.Asp213ThrfsTer3
XM_011516185.2:c.337del	XP_011514487.1:p.Asp113ThrfsTer3
XM_011516186.3:c.637del	XP_011514488.1:p.Asp213ThrfsTer3
XM_017012195.1:c.487del	XP_016867684.1:p.Asp163ThrfsTer3
XM_017012196.1:c.460del	XP_016867685.1:p.Asp154ThrfsTer3
NM_000238.4:c.637del MANE Select	NP_000229.1:p.Asp213ThrfsTer3