Canonical Allele Identifier: CA2685602472

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948406-G-GTCCCCCCCCCCCCCCCTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948411_150948412insCCCCCCCCCCCTCCTCCCC , CM000669.2:g.150948411_150948412insCCCCCCCCCCCTCCTCCCC	GRCh38
NC_000007.13:g.150645499_150645500insCCCCCCCCCCCTCCTCCCC , CM000669.1:g.150645499_150645500insCCCCCCCCCCCTCCTCCCC	GRCh37
NC_000007.12:g.150276432_150276433insCCCCCCCCCCCTCCTCCCC	NCBI36
NG_008916.1:g.34520_34521insGGAGGGGGGGGGGGGGGGA , LRG_288:g.34520_34521insGGAGGGGGGGGGGGGGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+37_3525+38insGGAGGGGGGGGGGGGGGGA
ENST00000262186.10:c.2692+37_2692+38insGGAGGGGGGGGGGGGGGGA MANE Select	ENSP00000262186.5:n.2692+37_2692+38insGGAGGGGGGGGGGGGGGGA
ENST00000330883.9:c.1672+37_1672+38insGGAGGGGGGGGGGGGGGGA	ENSP00000328531.4:n.1672+37_1672+38insGGAGGGGGGGGGGGGGGGA
ENST00000262186.9:c.2692+37_2692+38insGGAGGGGGGGGGGGGGGGA	ENSP00000262186.5:n.2692+37_2692+38insGGAGGGGGGGGGGGGGGGA
ENST00000330883.8:c.1672+37_1672+38insGGAGGGGGGGGGGGGGGGA	ENSP00000328531.4:n.1672+37_1672+38insGGAGGGGGGGGGGGGGGGA
NM_000238.3:c.2692+37_2692+38insGGAGGGGGGGGGGGGGGGA , LRG_288t1:c.2692+37_2692+38insGGAGGGGGGGGGGGGGGGA	NP_000229.1:n.2692+37_2692+38insGGAGGGGGGGGGGGGGGGA
NM_172057.2:c.1672+37_1672+38insGGAGGGGGGGGGGGGGGGA , LRG_288t3:c.1672+37_1672+38insGGAGGGGGGGGGGGGGGGA	NP_742054.1:n.1672+37_1672+38insGGAGGGGGGGGGGGGGGGA
XM_011516185.1:c.2392+37_2392+38insGGAGGGGGGGGGGGGGGGA	XP_011514487.1:n.2392+37_2392+38insGGAGGGGGGGGGGGGGGGA
XM_011516186.1:c.2692+37_2692+38insGGAGGGGGGGGGGGGGGGA	XP_011514488.1:n.2692+37_2692+38insGGAGGGGGGGGGGGGGGGA
XM_011516185.2:c.2392+37_2392+38insGGAGGGGGGGGGGGGGGGA	XP_011514487.1:n.2392+37_2392+38insGGAGGGGGGGGGGGGGGGA
XM_011516186.3:c.2692+37_2692+38insGGAGGGGGGGGGGGGGGGA	XP_011514488.1:n.2692+37_2692+38insGGAGGGGGGGGGGGGGGGA
XM_017012195.1:c.2542+37_2542+38insGGAGGGGGGGGGGGGGGGA	XP_016867684.1:n.2542+37_2542+38insGGAGGGGGGGGGGGGGGGA
XM_017012196.1:c.2515+37_2515+38insGGAGGGGGGGGGGGGGGGA	XP_016867685.1:n.2515+37_2515+38insGGAGGGGGGGGGGGGGGGA
NM_000238.4:c.2692+37_2692+38insGGAGGGGGGGGGGGGGGGA MANE Select	NP_000229.1:n.2692+37_2692+38insGGAGGGGGGGGGGGGGGGA
NM_172057.3:c.1672+37_1672+38insGGAGGGGGGGGGGGGGGGA	NP_742054.1:n.1672+37_1672+38insGGAGGGGGGGGGGGGGGGA