Canonical Allele Identifier: CA2685600738

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948819-CAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948824_150948826del , CM000669.2:g.150948824_150948826del	GRCh38
NC_000007.13:g.150645912_150645914del , CM000669.1:g.150645912_150645914del	GRCh37
NC_000007.12:g.150276845_150276847del	NCBI36
NG_008916.1:g.34105_34107del , LRG_288:g.34105_34107del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3425+34_3425+36del
ENST00000262186.10:c.2592+34_2592+36del MANE Select	ENSP00000262186.5:n.2592+34_2592+36del
ENST00000330883.9:c.1572+34_1572+36del	ENSP00000328531.4:n.1572+34_1572+36del
ENST00000262186.9:c.2592+34_2592+36del	ENSP00000262186.5:n.2592+34_2592+36del
ENST00000330883.8:c.1572+34_1572+36del	ENSP00000328531.4:n.1572+34_1572+36del
NM_000238.3:c.2592+34_2592+36del , LRG_288t1:c.2592+34_2592+36del	NP_000229.1:n.2592+34_2592+36del
NM_172057.2:c.1572+34_1572+36del , LRG_288t3:c.1572+34_1572+36del	NP_742054.1:n.1572+34_1572+36del
XM_011516185.1:c.2292+34_2292+36del	XP_011514487.1:n.2292+34_2292+36del
XM_011516186.1:c.2592+34_2592+36del	XP_011514488.1:n.2592+34_2592+36del
XM_011516185.2:c.2292+34_2292+36del	XP_011514487.1:n.2292+34_2292+36del
XM_011516186.3:c.2592+34_2592+36del	XP_011514488.1:n.2592+34_2592+36del
XM_017012195.1:c.2442+34_2442+36del	XP_016867684.1:n.2442+34_2442+36del
XM_017012196.1:c.2415+34_2415+36del	XP_016867685.1:n.2415+34_2415+36del
NM_000238.4:c.2592+34_2592+36del MANE Select	NP_000229.1:n.2592+34_2592+36del
NM_172057.3:c.1572+34_1572+36del	NP_742054.1:n.1572+34_1572+36del