Canonical Allele Identifier: CA2685602603

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948422-T-TACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948422_150948423insACAC , CM000669.2:g.150948422_150948423insACAC	GRCh38
NC_000007.13:g.150645510_150645511insACAC , CM000669.1:g.150645510_150645511insACAC	GRCh37
NC_000007.12:g.150276443_150276444insACAC	NCBI36
NG_008916.1:g.34504_34505insGTGT , LRG_288:g.34504_34505insGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+21_3525+22insGTGT
ENST00000262186.10:c.2692+21_2692+22insGTGT MANE Select	ENSP00000262186.5:n.2692+21_2692+22insGTGT
ENST00000330883.9:c.1672+21_1672+22insGTGT	ENSP00000328531.4:n.1672+21_1672+22insGTGT
ENST00000262186.9:c.2692+21_2692+22insGTGT	ENSP00000262186.5:n.2692+21_2692+22insGTGT
ENST00000330883.8:c.1672+21_1672+22insGTGT	ENSP00000328531.4:n.1672+21_1672+22insGTGT
NM_000238.3:c.2692+21_2692+22insGTGT , LRG_288t1:c.2692+21_2692+22insGTGT	NP_000229.1:n.2692+21_2692+22insGTGT
NM_172057.2:c.1672+21_1672+22insGTGT , LRG_288t3:c.1672+21_1672+22insGTGT	NP_742054.1:n.1672+21_1672+22insGTGT
XM_011516185.1:c.2392+21_2392+22insGTGT	XP_011514487.1:n.2392+21_2392+22insGTGT
XM_011516186.1:c.2692+21_2692+22insGTGT	XP_011514488.1:n.2692+21_2692+22insGTGT
XM_011516185.2:c.2392+21_2392+22insGTGT	XP_011514487.1:n.2392+21_2392+22insGTGT
XM_011516186.3:c.2692+21_2692+22insGTGT	XP_011514488.1:n.2692+21_2692+22insGTGT
XM_017012195.1:c.2542+21_2542+22insGTGT	XP_016867684.1:n.2542+21_2542+22insGTGT
XM_017012196.1:c.2515+21_2515+22insGTGT	XP_016867685.1:n.2515+21_2515+22insGTGT
NM_000238.4:c.2692+21_2692+22insGTGT MANE Select	NP_000229.1:n.2692+21_2692+22insGTGT
NM_172057.3:c.1672+21_1672+22insGTGT	NP_742054.1:n.1672+21_1672+22insGTGT