Canonical Allele Identifier: CA2685600717

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948785-TCACACAGCAAAGGGGCAGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948794_150948812del , CM000669.2:g.150948794_150948812del	GRCh38
NC_000007.13:g.150645882_150645900del , CM000669.1:g.150645882_150645900del	GRCh37
NC_000007.12:g.150276815_150276833del	NCBI36
NG_008916.1:g.34123_34141del , LRG_288:g.34123_34141del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3425+52_3425+70del
ENST00000262186.10:c.2592+52_2592+70del MANE Select	ENSP00000262186.5:n.2592+52_2592+70del
ENST00000330883.9:c.1572+52_1572+70del	ENSP00000328531.4:n.1572+52_1572+70del
ENST00000262186.9:c.2592+52_2592+70del	ENSP00000262186.5:n.2592+52_2592+70del
ENST00000330883.8:c.1572+52_1572+70del	ENSP00000328531.4:n.1572+52_1572+70del
NM_000238.3:c.2592+52_2592+70del , LRG_288t1:c.2592+52_2592+70del	NP_000229.1:n.2592+52_2592+70del
NM_172057.2:c.1572+52_1572+70del , LRG_288t3:c.1572+52_1572+70del	NP_742054.1:n.1572+52_1572+70del
XM_011516185.1:c.2292+52_2292+70del	XP_011514487.1:n.2292+52_2292+70del
XM_011516186.1:c.2592+52_2592+70del	XP_011514488.1:n.2592+52_2592+70del
XM_011516185.2:c.2292+52_2292+70del	XP_011514487.1:n.2292+52_2292+70del
XM_011516186.3:c.2592+52_2592+70del	XP_011514488.1:n.2592+52_2592+70del
XM_017012195.1:c.2442+52_2442+70del	XP_016867684.1:n.2442+52_2442+70del
XM_017012196.1:c.2415+52_2415+70del	XP_016867685.1:n.2415+52_2415+70del
NM_000238.4:c.2592+52_2592+70del MANE Select	NP_000229.1:n.2592+52_2592+70del
NM_172057.3:c.1572+52_1572+70del	NP_742054.1:n.1572+52_1572+70del