Canonical Allele Identifier: CA578701721

Gene: KCNH2

Linked Data

• gnomAD v2: 7-150645514-T-TCCCCC
• gnomAD v4: 7-150948426-T-TCCCCC
• MyVariant Identifiers: chr7:g.150645514_150645515insCCCCC (hg19) ; chr7:g.150948426_150948427insCCCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948430_150948431insCCCCC , CM000669.2:g.150948430_150948431insCCCCC	GRCh38
NC_000007.13:g.150645518_150645519insCCCCC , CM000669.1:g.150645518_150645519insCCCCC	GRCh37
NC_000007.12:g.150276451_150276452insCCCCC	NCBI36
NG_008916.1:g.34500_34501insGGGGG , LRG_288:g.34500_34501insGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+17_3525+18insGGGGG
ENST00000262186.10:c.2692+17_2692+18insGGGGG MANE Select	ENSP00000262186.5:n.2692+17_2692+18insGGGGG
ENST00000330883.9:c.1672+17_1672+18insGGGGG	ENSP00000328531.4:n.1672+17_1672+18insGGGGG
ENST00000262186.9:c.2692+17_2692+18insGGGGG	ENSP00000262186.5:n.2692+17_2692+18insGGGGG
ENST00000330883.8:c.1672+17_1672+18insGGGGG	ENSP00000328531.4:n.1672+17_1672+18insGGGGG
NM_000238.3:c.2692+17_2692+18insGGGGG , LRG_288t1:c.2692+17_2692+18insGGGGG	NP_000229.1:n.2692+17_2692+18insGGGGG
NM_172057.2:c.1672+17_1672+18insGGGGG , LRG_288t3:c.1672+17_1672+18insGGGGG	NP_742054.1:n.1672+17_1672+18insGGGGG
XM_011516185.1:c.2392+17_2392+18insGGGGG	XP_011514487.1:n.2392+17_2392+18insGGGGG
XM_011516186.1:c.2692+17_2692+18insGGGGG	XP_011514488.1:n.2692+17_2692+18insGGGGG
XM_011516185.2:c.2392+17_2392+18insGGGGG	XP_011514487.1:n.2392+17_2392+18insGGGGG
XM_011516186.3:c.2692+17_2692+18insGGGGG	XP_011514488.1:n.2692+17_2692+18insGGGGG
XM_017012195.1:c.2542+17_2542+18insGGGGG	XP_016867684.1:n.2542+17_2542+18insGGGGG
XM_017012196.1:c.2515+17_2515+18insGGGGG	XP_016867685.1:n.2515+17_2515+18insGGGGG
NM_000238.4:c.2692+17_2692+18insGGGGG MANE Select	NP_000229.1:n.2692+17_2692+18insGGGGG
NM_172057.3:c.1672+17_1672+18insGGGGG	NP_742054.1:n.1672+17_1672+18insGGGGG