Canonical Allele Identifier: CA2685608307

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958326-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958327del , CM000669.2:g.150958327del	GRCh38
NC_000007.13:g.150655415del , CM000669.1:g.150655415del	GRCh37
NC_000007.12:g.150286348del	NCBI36
NG_008916.1:g.24600del , LRG_288:g.24600del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1481del
ENST00000262186.10:c.648del MANE Select	ENSP00000262186.5:p.Ala217ProfsTer?
ENST00000262186.9:c.648del	ENSP00000262186.5:p.Ala217ProfsTer?
ENST00000430723.4:c.300del	ENSP00000387657.4:p.Ala101ProfsTer?
ENST00000532957.5:n.871del
NM_000238.3:c.648del , LRG_288t1:c.648del	NP_000229.1:p.Ala217ProfsTer?
NM_172056.2:c.648del , LRG_288t2:c.648del	NP_742053.1:p.Ala217ProfsTer?
XM_011516185.1:c.348del	XP_011514487.1:p.Ala117ProfsTer?
XM_011516186.1:c.648del	XP_011514488.1:p.Ala217ProfsTer?
XM_011516185.2:c.348del	XP_011514487.1:p.Ala117ProfsTer?
XM_011516186.3:c.648del	XP_011514488.1:p.Ala217ProfsTer?
XM_017012195.1:c.498del	XP_016867684.1:p.Ala167ProfsTer?
XM_017012196.1:c.471del	XP_016867685.1:p.Ala158ProfsTer?
NM_000238.4:c.648del MANE Select	NP_000229.1:p.Ala217ProfsTer?