Canonical Allele Identifier: CA2685602473

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948407-T-TCCCCCCCCCCCCCCCTTCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948411_150948412insCCCCCCCCCCCTTCCCCCCCCCC , CM000669.2:g.150948411_150948412insCCCCCCCCCCCTTCCCCCCCCCC	GRCh38
NC_000007.13:g.150645499_150645500insCCCCCCCCCCCTTCCCCCCCCCC , CM000669.1:g.150645499_150645500insCCCCCCCCCCCTTCCCCCCCCCC	GRCh37
NC_000007.12:g.150276432_150276433insCCCCCCCCCCCTTCCCCCCCCCC	NCBI36
NG_008916.1:g.34519_34520insGGGGGGAAGGGGGGGGGGGGGGG , LRG_288:g.34519_34520insGGGGGGAAGGGGGGGGGGGGGGG

Transcript Alleles

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