Canonical Allele Identifier: CA2685608128

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958289-TCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958298_150958372del , CM000669.2:g.150958298_150958372del	GRCh38
NC_000007.13:g.150655386_150655460del , CM000669.1:g.150655386_150655460del	GRCh37
NC_000007.12:g.150286319_150286393del	NCBI36
NG_008916.1:g.24563_24637del , LRG_288:g.24563_24637del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1444_1518del
ENST00000262186.10:c.611_685del MANE Select	ENSP00000262186.5:p.Ala204_Ala228del
ENST00000262186.9:c.611_685del	ENSP00000262186.5:p.Ala204_Ala228del
ENST00000430723.4:c.263_337del	ENSP00000387657.4:p.Ala88_Ala112del
ENST00000532957.5:n.834_908del
NM_000238.3:c.611_685del , LRG_288t1:c.611_685del	NP_000229.1:p.Ala204_Ala228del
NM_172056.2:c.611_685del , LRG_288t2:c.611_685del	NP_742053.1:p.Ala204_Ala228del
XM_011516185.1:c.311_385del	XP_011514487.1:p.Ala104_Ala128del
XM_011516186.1:c.611_685del	XP_011514488.1:p.Ala204_Ala228del
XM_011516185.2:c.311_385del	XP_011514487.1:p.Ala104_Ala128del
XM_011516186.3:c.611_685del	XP_011514488.1:p.Ala204_Ala228del
XM_017012195.1:c.461_535del	XP_016867684.1:p.Ala154_Ala178del
XM_017012196.1:c.434_508del	XP_016867685.1:p.Ala145_Ala169del
NM_000238.4:c.611_685del MANE Select	NP_000229.1:p.Ala204_Ala228del