Canonical Allele Identifier: CA2685607591

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958185-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958187del , CM000669.2:g.150958187del	GRCh38
NC_000007.13:g.150655275del , CM000669.1:g.150655275del	GRCh37
NC_000007.12:g.150286208del	NCBI36
NG_008916.1:g.24741del , LRG_288:g.24741del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1622del
ENST00000262186.10:c.789del MANE Select	ENSP00000262186.5:p.Ser264AlafsTer?
ENST00000262186.9:c.789del	ENSP00000262186.5:p.Ser264AlafsTer?
ENST00000430723.4:c.441del	ENSP00000387657.4:p.Ser148AlafsTer?
ENST00000532957.5:n.1012del
NM_000238.3:c.789del , LRG_288t1:c.789del	NP_000229.1:p.Ser264AlafsTer?
NM_172056.2:c.789del , LRG_288t2:c.789del	NP_742053.1:p.Ser264AlafsTer?
XM_011516185.1:c.489del	XP_011514487.1:p.Ser164AlafsTer?
XM_011516186.1:c.789del	XP_011514488.1:p.Ser264AlafsTer?
XM_011516185.2:c.489del	XP_011514487.1:p.Ser164AlafsTer?
XM_011516186.3:c.789del	XP_011514488.1:p.Ser264AlafsTer?
XM_017012195.1:c.639del	XP_016867684.1:p.Ser214AlafsTer?
XM_017012196.1:c.612del	XP_016867685.1:p.Ser205AlafsTer?
NM_000238.4:c.789del MANE Select	NP_000229.1:p.Ser264AlafsTer?