Canonical Allele Identifier: CA658761320

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 653333
• ClinVar RCV Id: RCV001571314 ; RCV000809086 ; RCV002440737
• dbSNP Id: rs1584845263
• gnomAD v4: 7-150947808-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947812del , CM000669.2:g.150947812del	GRCh38
NC_000007.13:g.150644900del , CM000669.1:g.150644900del	GRCh37
NC_000007.12:g.150275833del	NCBI36
NG_008916.1:g.35118del , LRG_288:g.35118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3595del
ENST00000262186.10:c.2762del MANE Select	ENSP00000262186.5:p.Gly921AlafsTer?
ENST00000330883.9:c.1742del	ENSP00000328531.4:p.Gly581AlafsTer?
ENST00000262186.9:c.2762del	ENSP00000262186.5:p.Gly921AlafsTer?
ENST00000330883.8:c.1742del	ENSP00000328531.4:p.Gly581AlafsTer?
NM_000238.3:c.2762del , LRG_288t1:c.2762del	NP_000229.1:p.Gly921AlafsTer?
NM_172057.2:c.1742del , LRG_288t3:c.1742del	NP_742054.1:p.Gly581AlafsTer?
XM_011516185.1:c.2462del	XP_011514487.1:p.Gly821AlafsTer?
XM_011516186.1:c.2693-118del	XP_011514488.1:n.2693-118del
XM_011516185.2:c.2462del	XP_011514487.1:p.Gly821AlafsTer?
XM_011516186.3:c.2693-118del	XP_011514488.1:n.2693-118del
XM_017012195.1:c.2612del	XP_016867684.1:p.Gly871AlafsTer?
XM_017012196.1:c.2585del	XP_016867685.1:p.Gly862AlafsTer?
NM_000238.4:c.2762del MANE Select	NP_000229.1:p.Gly921AlafsTer?
NM_172057.3:c.1742del	NP_742054.1:p.Gly581AlafsTer?