Canonical Allele Identifier: CA2685600522

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150946889-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946889_150946890insC , CM000669.2:g.150946889_150946890insC	GRCh38
NC_000007.13:g.150643977_150643978insC , CM000669.1:g.150643977_150643978insC	GRCh37
NC_000007.12:g.150274910_150274911insC	NCBI36
NG_008916.1:g.36037_36038insG , LRG_288:g.36037_36038insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.4150_4151insG
ENST00000262186.10:c.3317_3318insG MANE Select	ENSP00000262186.5:p.Asp1106GlufsTer13
ENST00000330883.9:c.2297_2298insG	ENSP00000328531.4:p.Asp766GlufsTer13
ENST00000262186.9:c.3317_3318insG	ENSP00000262186.5:p.Asp1106GlufsTer13
ENST00000330883.8:c.2297_2298insG	ENSP00000328531.4:p.Asp766GlufsTer13
NM_000238.3:c.3317_3318insG , LRG_288t1:c.3317_3318insG	NP_000229.1:p.Asp1106GlufsTer13
NM_172057.2:c.2297_2298insG , LRG_288t3:c.2297_2298insG	NP_742054.1:p.Asp766GlufsTer13
XM_011516185.1:c.3017_3018insG	XP_011514487.1:p.Asp1006GlufsTer13
XM_011516185.2:c.3017_3018insG	XP_011514487.1:p.Asp1006GlufsTer13
XM_017012195.1:c.3167_3168insG	XP_016867684.1:p.Asp1056GlufsTer13
XM_017012196.1:c.3140_3141insG	XP_016867685.1:p.Asp1047GlufsTer13
NM_000238.4:c.3317_3318insG MANE Select	NP_000229.1:p.Asp1106GlufsTer13
NM_172057.3:c.2297_2298insG	NP_742054.1:p.Asp766GlufsTer13