Canonical Allele Identifier: CA16609637

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2567296
• ClinVar RCV Id: RCV003311171

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947644del , CM000669.2:g.150947644del	GRCh38
NC_000007.13:g.150644732del , CM000669.1:g.150644732del	GRCh37
NC_000007.12:g.150275665del	NCBI36
NG_008916.1:g.35283del , LRG_288:g.35283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3760del
ENST00000262186.10:c.2927del MANE Select	ENSP00000262186.5:p.Asp976AlafsTer?
ENST00000330883.9:c.1907del	ENSP00000328531.4:p.Asp636AlafsTer?
ENST00000262186.9:c.2927del	ENSP00000262186.5:p.Asp976AlafsTer?
ENST00000330883.8:c.1907del	ENSP00000328531.4:p.Asp636AlafsTer?
NM_000238.3:c.2927del , LRG_288t1:c.2927del	NP_000229.1:p.Asp976AlafsTer?
NM_172057.2:c.1907del , LRG_288t3:c.1907del	NP_742054.1:p.Asp636AlafsTer?
XM_011516185.1:c.2627del	XP_011514487.1:p.Asp876AlafsTer?
XM_011516186.1:c.*7del	XP_011514488.1:n.*7del
XM_011516185.2:c.2627del	XP_011514487.1:p.Asp876AlafsTer?
XM_011516186.3:c.*7del	XP_011514488.1:n.*7del
XM_017012195.1:c.2777del	XP_016867684.1:p.Asp926AlafsTer?
XM_017012196.1:c.2750del	XP_016867685.1:p.Asp917AlafsTer?
NM_000238.4:c.2927del MANE Select	NP_000229.1:p.Asp976AlafsTer?
NM_172057.3:c.1907del	NP_742054.1:p.Asp636AlafsTer?