Canonical Allele Identifier: CA2685602694

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948436-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948436_150948437insT , CM000669.2:g.150948436_150948437insT	GRCh38
NC_000007.13:g.150645524_150645525insT , CM000669.1:g.150645524_150645525insT	GRCh37
NC_000007.12:g.150276457_150276458insT	NCBI36
NG_008916.1:g.34490_34491insA , LRG_288:g.34490_34491insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+7_3525+8insA
ENST00000262186.10:c.2692+7_2692+8insA MANE Select	ENSP00000262186.5:n.2692+7_2692+8insA
ENST00000330883.9:c.1672+7_1672+8insA	ENSP00000328531.4:n.1672+7_1672+8insA
ENST00000262186.9:c.2692+7_2692+8insA	ENSP00000262186.5:n.2692+7_2692+8insA
ENST00000330883.8:c.1672+7_1672+8insA	ENSP00000328531.4:n.1672+7_1672+8insA
NM_000238.3:c.2692+7_2692+8insA , LRG_288t1:c.2692+7_2692+8insA	NP_000229.1:n.2692+7_2692+8insA
NM_172057.2:c.1672+7_1672+8insA , LRG_288t3:c.1672+7_1672+8insA	NP_742054.1:n.1672+7_1672+8insA
XM_011516185.1:c.2392+7_2392+8insA	XP_011514487.1:n.2392+7_2392+8insA
XM_011516186.1:c.2692+7_2692+8insA	XP_011514488.1:n.2692+7_2692+8insA
XM_011516185.2:c.2392+7_2392+8insA	XP_011514487.1:n.2392+7_2392+8insA
XM_011516186.3:c.2692+7_2692+8insA	XP_011514488.1:n.2692+7_2692+8insA
XM_017012195.1:c.2542+7_2542+8insA	XP_016867684.1:n.2542+7_2542+8insA
XM_017012196.1:c.2515+7_2515+8insA	XP_016867685.1:n.2515+7_2515+8insA
NM_000238.4:c.2692+7_2692+8insA MANE Select	NP_000229.1:n.2692+7_2692+8insA
NM_172057.3:c.1672+7_1672+8insA	NP_742054.1:n.1672+7_1672+8insA