Canonical Allele Identifier: CA2685608581

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958399-CCCCGGGGCGCCCGCGCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958404_150958421del , CM000669.2:g.150958404_150958421del	GRCh38
NC_000007.13:g.150655492_150655509del , CM000669.1:g.150655492_150655509del	GRCh37
NC_000007.12:g.150286425_150286442del	NCBI36
NG_008916.1:g.24510_24527del , LRG_288:g.24510_24527del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1391_1408del
ENST00000262186.10:c.558_575del MANE Select	ENSP00000262186.5:p.Gly187_Gly192del
ENST00000262186.9:c.558_575del	ENSP00000262186.5:p.Gly187_Gly192del
ENST00000430723.4:c.235-25_235-8del	ENSP00000387657.4:n.235-25_235-8del
ENST00000532957.5:n.781_798del
NM_000238.3:c.558_575del , LRG_288t1:c.558_575del	NP_000229.1:p.Gly187_Gly192del
NM_172056.2:c.558_575del , LRG_288t2:c.558_575del	NP_742053.1:p.Gly187_Gly192del
XM_011516185.1:c.258_275del	XP_011514487.1:p.Gly87_Gly92del
XM_011516186.1:c.558_575del	XP_011514488.1:p.Gly187_Gly192del
XM_011516185.2:c.258_275del	XP_011514487.1:p.Gly87_Gly92del
XM_011516186.3:c.558_575del	XP_011514488.1:p.Gly187_Gly192del
XM_017012195.1:c.408_425del	XP_016867684.1:p.Gly137_Gly142del
XM_017012196.1:c.381_398del	XP_016867685.1:p.Gly128_Gly133del
NM_000238.4:c.558_575del MANE Select	NP_000229.1:p.Gly187_Gly192del