Canonical Allele Identifier: CA578701749

Gene: KCNH2

Linked Data

• gnomAD v2: 7-150645519-T-TCCCCCCCC
• gnomAD v3: 7-150948431-T-TCCCCCCCC
• gnomAD v4: 7-150948431-T-TCCCCCCCC
• MyVariant Identifiers: chr7:g.150645519_150645520insCCCCCCCC (hg19) ; chr7:g.150948431_150948432insCCCCCCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948436_150948437insCCCCCCCC , CM000669.2:g.150948436_150948437insCCCCCCCC	GRCh38
NC_000007.13:g.150645524_150645525insCCCCCCCC , CM000669.1:g.150645524_150645525insCCCCCCCC	GRCh37
NC_000007.12:g.150276457_150276458insCCCCCCCC	NCBI36
NG_008916.1:g.34495_34496insGGGGGGGG , LRG_288:g.34495_34496insGGGGGGGG

Transcript Alleles

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