Canonical Allele Identifier: CA2514502378

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948407-T-TGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948407_150948408insGCCC , CM000669.2:g.150948407_150948408insGCCC	GRCh38
NC_000007.13:g.150645495_150645496insGCCC , CM000669.1:g.150645495_150645496insGCCC	GRCh37
NC_000007.12:g.150276428_150276429insGCCC	NCBI36
NG_008916.1:g.34519_34520insGGGC , LRG_288:g.34519_34520insGGGC

Transcript Alleles

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