Canonical Allele Identifier: CA2685607370

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958120-GGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958122_150958124del , CM000669.2:g.150958122_150958124del	GRCh38
NC_000007.13:g.150655210_150655212del , CM000669.1:g.150655210_150655212del	GRCh37
NC_000007.12:g.150286143_150286145del	NCBI36
NG_008916.1:g.24804_24806del , LRG_288:g.24804_24806del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1685_1687del
ENST00000262186.10:c.852_854del MANE Select	ENSP00000262186.5:p.Ala285del
ENST00000262186.9:c.852_854del	ENSP00000262186.5:p.Ala285del
ENST00000430723.4:c.504_506del	ENSP00000387657.4:p.Ala169del
ENST00000532957.5:n.1075_1077del
NM_000238.3:c.852_854del , LRG_288t1:c.852_854del	NP_000229.1:p.Ala285del
NM_172056.2:c.852_854del , LRG_288t2:c.852_854del	NP_742053.1:p.Ala285del
XM_011516185.1:c.552_554del	XP_011514487.1:p.Ala185del
XM_011516186.1:c.852_854del	XP_011514488.1:p.Ala285del
XM_011516185.2:c.552_554del	XP_011514487.1:p.Ala185del
XM_011516186.3:c.852_854del	XP_011514488.1:p.Ala285del
XM_017012195.1:c.702_704del	XP_016867684.1:p.Ala235del
XM_017012196.1:c.675_677del	XP_016867685.1:p.Ala226del
NM_000238.4:c.852_854del MANE Select	NP_000229.1:p.Ala285del