Canonical Allele Identifier: CA2685602644

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948425-C-CAACA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948425_150948426insAACA , CM000669.2:g.150948425_150948426insAACA	GRCh38
NC_000007.13:g.150645513_150645514insAACA , CM000669.1:g.150645513_150645514insAACA	GRCh37
NC_000007.12:g.150276446_150276447insAACA	NCBI36
NG_008916.1:g.34501_34502insTGTT , LRG_288:g.34501_34502insTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+18_3525+19insTGTT
ENST00000262186.10:c.2692+18_2692+19insTGTT MANE Select	ENSP00000262186.5:n.2692+18_2692+19insTGTT
ENST00000330883.9:c.1672+18_1672+19insTGTT	ENSP00000328531.4:n.1672+18_1672+19insTGTT
ENST00000262186.9:c.2692+18_2692+19insTGTT	ENSP00000262186.5:n.2692+18_2692+19insTGTT
ENST00000330883.8:c.1672+18_1672+19insTGTT	ENSP00000328531.4:n.1672+18_1672+19insTGTT
NM_000238.3:c.2692+18_2692+19insTGTT , LRG_288t1:c.2692+18_2692+19insTGTT	NP_000229.1:n.2692+18_2692+19insTGTT
NM_172057.2:c.1672+18_1672+19insTGTT , LRG_288t3:c.1672+18_1672+19insTGTT	NP_742054.1:n.1672+18_1672+19insTGTT
XM_011516185.1:c.2392+18_2392+19insTGTT	XP_011514487.1:n.2392+18_2392+19insTGTT
XM_011516186.1:c.2692+18_2692+19insTGTT	XP_011514488.1:n.2692+18_2692+19insTGTT
XM_011516185.2:c.2392+18_2392+19insTGTT	XP_011514487.1:n.2392+18_2392+19insTGTT
XM_011516186.3:c.2692+18_2692+19insTGTT	XP_011514488.1:n.2692+18_2692+19insTGTT
XM_017012195.1:c.2542+18_2542+19insTGTT	XP_016867684.1:n.2542+18_2542+19insTGTT
XM_017012196.1:c.2515+18_2515+19insTGTT	XP_016867685.1:n.2515+18_2515+19insTGTT
NM_000238.4:c.2692+18_2692+19insTGTT MANE Select	NP_000229.1:n.2692+18_2692+19insTGTT
NM_172057.3:c.1672+18_1672+19insTGTT	NP_742054.1:n.1672+18_1672+19insTGTT