Canonical Allele Identifier: CA1108704971

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801001130
• gnomAD v3: 7-150948431-T-TCCCCCCCCC
• gnomAD v4: 7-150948431-T-TCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948436_150948437insCCCCCCCCC , CM000669.2:g.150948436_150948437insCCCCCCCCC	GRCh38
NC_000007.13:g.150645524_150645525insCCCCCCCCC , CM000669.1:g.150645524_150645525insCCCCCCCCC	GRCh37
NC_000007.12:g.150276457_150276458insCCCCCCCCC	NCBI36
NG_008916.1:g.34495_34496insGGGGGGGGG , LRG_288:g.34495_34496insGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+12_3525+13insGGGGGGGGG
ENST00000262186.10:c.2692+12_2692+13insGGGGGGGGG MANE Select	ENSP00000262186.5:n.2692+12_2692+13insGGGGGGGGG
ENST00000330883.9:c.1672+12_1672+13insGGGGGGGGG	ENSP00000328531.4:n.1672+12_1672+13insGGGGGGGGG
ENST00000262186.9:c.2692+12_2692+13insGGGGGGGGG	ENSP00000262186.5:n.2692+12_2692+13insGGGGGGGGG
ENST00000330883.8:c.1672+12_1672+13insGGGGGGGGG	ENSP00000328531.4:n.1672+12_1672+13insGGGGGGGGG
NM_000238.3:c.2692+12_2692+13insGGGGGGGGG , LRG_288t1:c.2692+12_2692+13insGGGGGGGGG	NP_000229.1:n.2692+12_2692+13insGGGGGGGGG
NM_172057.2:c.1672+12_1672+13insGGGGGGGGG , LRG_288t3:c.1672+12_1672+13insGGGGGGGGG	NP_742054.1:n.1672+12_1672+13insGGGGGGGGG
XM_011516185.1:c.2392+12_2392+13insGGGGGGGGG	XP_011514487.1:n.2392+12_2392+13insGGGGGGGGG
XM_011516186.1:c.2692+12_2692+13insGGGGGGGGG	XP_011514488.1:n.2692+12_2692+13insGGGGGGGGG
XM_011516185.2:c.2392+12_2392+13insGGGGGGGGG	XP_011514487.1:n.2392+12_2392+13insGGGGGGGGG
XM_011516186.3:c.2692+12_2692+13insGGGGGGGGG	XP_011514488.1:n.2692+12_2692+13insGGGGGGGGG
XM_017012195.1:c.2542+12_2542+13insGGGGGGGGG	XP_016867684.1:n.2542+12_2542+13insGGGGGGGGG
XM_017012196.1:c.2515+12_2515+13insGGGGGGGGG	XP_016867685.1:n.2515+12_2515+13insGGGGGGGGG
NM_000238.4:c.2692+12_2692+13insGGGGGGGGG MANE Select	NP_000229.1:n.2692+12_2692+13insGGGGGGGGG
NM_172057.3:c.1672+12_1672+13insGGGGGGGGG	NP_742054.1:n.1672+12_1672+13insGGGGGGGGG