Canonical Allele Identifier: CA2685602479

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948407-T-TTCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948407_150948408insTCCC , CM000669.2:g.150948407_150948408insTCCC	GRCh38
NC_000007.13:g.150645495_150645496insTCCC , CM000669.1:g.150645495_150645496insTCCC	GRCh37
NC_000007.12:g.150276428_150276429insTCCC	NCBI36
NG_008916.1:g.34519_34520insGGGA , LRG_288:g.34519_34520insGGGA

Transcript Alleles

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