Canonical Allele Identifier: CA2579062963

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958267-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958270del , CM000669.2:g.150958270del	GRCh38
NC_000007.13:g.150655358del , CM000669.1:g.150655358del	GRCh37
NC_000007.12:g.150286291del	NCBI36
NG_008916.1:g.24659del , LRG_288:g.24659del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1540del
ENST00000262186.10:c.707del MANE Select	ENSP00000262186.5:p.Gly236ValfsTer?
ENST00000262186.9:c.707del	ENSP00000262186.5:p.Gly236ValfsTer?
ENST00000430723.4:c.359del	ENSP00000387657.4:p.Gly120ValfsTer?
ENST00000532957.5:n.930del
NM_000238.3:c.707del , LRG_288t1:c.707del	NP_000229.1:p.Gly236ValfsTer?
NM_172056.2:c.707del , LRG_288t2:c.707del	NP_742053.1:p.Gly236ValfsTer?
XM_011516185.1:c.407del	XP_011514487.1:p.Gly136ValfsTer?
XM_011516186.1:c.707del	XP_011514488.1:p.Gly236ValfsTer?
XM_011516185.2:c.407del	XP_011514487.1:p.Gly136ValfsTer?
XM_011516186.3:c.707del	XP_011514488.1:p.Gly236ValfsTer?
XM_017012195.1:c.557del	XP_016867684.1:p.Gly186ValfsTer?
XM_017012196.1:c.530del	XP_016867685.1:p.Gly177ValfsTer?
NM_000238.4:c.707del MANE Select	NP_000229.1:p.Gly236ValfsTer?