Canonical Allele Identifier: CA1108704617

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 917819
• ClinVar RCV Id: RCV001383848 ; RCV001842618 ; RCV003163386
• dbSNP Id: rs1800940404
• gnomAD v3: 7-150947387-AC-A
• gnomAD v4: 7-150947387-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947390del , CM000669.2:g.150947390del	GRCh38
NC_000007.13:g.150644478del , CM000669.1:g.150644478del	GRCh37
NC_000007.12:g.150275411del	NCBI36
NG_008916.1:g.35539del , LRG_288:g.35539del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3925del
ENST00000262186.10:c.3092del MANE Select	ENSP00000262186.5:p.Gly1031ValfsTer26
ENST00000330883.9:c.2072del	ENSP00000328531.4:p.Gly691ValfsTer26
ENST00000262186.9:c.3092del	ENSP00000262186.5:p.Gly1031ValfsTer26
ENST00000330883.8:c.2072del	ENSP00000328531.4:p.Gly691ValfsTer26
NM_000238.3:c.3092del , LRG_288t1:c.3092del	NP_000229.1:p.Gly1031ValfsTer26
NM_172057.2:c.2072del , LRG_288t3:c.2072del	NP_742054.1:p.Gly691ValfsTer26
XM_011516185.1:c.2792del	XP_011514487.1:p.Gly931ValfsTer26
XM_011516185.2:c.2792del	XP_011514487.1:p.Gly931ValfsTer26
XM_017012195.1:c.2942del	XP_016867684.1:p.Gly981ValfsTer26
XM_017012196.1:c.2915del	XP_016867685.1:p.Gly972ValfsTer26
NM_000238.4:c.3092del MANE Select	NP_000229.1:p.Gly1031ValfsTer26
NM_172057.3:c.2072del	NP_742054.1:p.Gly691ValfsTer26