Canonical Allele Identifier: CA2685602499

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948407-T-TCCCCCCCCCCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948411_150948412insCCCCCCCCCCCCCCCCCCCCCC , CM000669.2:g.150948411_150948412insCCCCCCCCCCCCCCCCCCCCCC	GRCh38
NC_000007.13:g.150645499_150645500insCCCCCCCCCCCCCCCCCCCCCC , CM000669.1:g.150645499_150645500insCCCCCCCCCCCCCCCCCCCCCC	GRCh37
NC_000007.12:g.150276432_150276433insCCCCCCCCCCCCCCCCCCCCCC	NCBI36
NG_008916.1:g.34519_34520insGGGGGGGGGGGGGGGGGGGGGG , LRG_288:g.34519_34520insGGGGGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+36_3525+37insGGGGGGGGGGGGGGGGGGGGGG
ENST00000262186.10:c.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGG MANE Select	ENSP00000262186.5:n.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGG
ENST00000330883.9:c.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGG	ENSP00000328531.4:n.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGG
ENST00000262186.9:c.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGG	ENSP00000262186.5:n.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGG
ENST00000330883.8:c.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGG	ENSP00000328531.4:n.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGG
NM_000238.3:c.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGG , LRG_288t1:c.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGG	NP_000229.1:n.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGG
NM_172057.2:c.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGG , LRG_288t3:c.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGG	NP_742054.1:n.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGG
XM_011516185.1:c.2392+36_2392+37insGGGGGGGGGGGGGGGGGGGGGG	XP_011514487.1:n.2392+36_2392+37insGGGGGGGGGGGGGGGGGGGGGG
XM_011516186.1:c.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGG	XP_011514488.1:n.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGG
XM_011516185.2:c.2392+36_2392+37insGGGGGGGGGGGGGGGGGGGGGG	XP_011514487.1:n.2392+36_2392+37insGGGGGGGGGGGGGGGGGGGGGG
XM_011516186.3:c.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGG	XP_011514488.1:n.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGG
XM_017012195.1:c.2542+36_2542+37insGGGGGGGGGGGGGGGGGGGGGG	XP_016867684.1:n.2542+36_2542+37insGGGGGGGGGGGGGGGGGGGGGG
XM_017012196.1:c.2515+36_2515+37insGGGGGGGGGGGGGGGGGGGGGG	XP_016867685.1:n.2515+36_2515+37insGGGGGGGGGGGGGGGGGGGGGG
NM_000238.4:c.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGG MANE Select	NP_000229.1:n.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGG
NM_172057.3:c.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGG	NP_742054.1:n.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGG