Canonical Allele Identifier: CA2685602670

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948427-C-CAACAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948427_150948428insAACAA , CM000669.2:g.150948427_150948428insAACAA	GRCh38
NC_000007.13:g.150645515_150645516insAACAA , CM000669.1:g.150645515_150645516insAACAA	GRCh37
NC_000007.12:g.150276448_150276449insAACAA	NCBI36
NG_008916.1:g.34499_34500insTTGTT , LRG_288:g.34499_34500insTTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+16_3525+17insTTGTT
ENST00000262186.10:c.2692+16_2692+17insTTGTT MANE Select	ENSP00000262186.5:n.2692+16_2692+17insTTGTT
ENST00000330883.9:c.1672+16_1672+17insTTGTT	ENSP00000328531.4:n.1672+16_1672+17insTTGTT
ENST00000262186.9:c.2692+16_2692+17insTTGTT	ENSP00000262186.5:n.2692+16_2692+17insTTGTT
ENST00000330883.8:c.1672+16_1672+17insTTGTT	ENSP00000328531.4:n.1672+16_1672+17insTTGTT
NM_000238.3:c.2692+16_2692+17insTTGTT , LRG_288t1:c.2692+16_2692+17insTTGTT	NP_000229.1:n.2692+16_2692+17insTTGTT
NM_172057.2:c.1672+16_1672+17insTTGTT , LRG_288t3:c.1672+16_1672+17insTTGTT	NP_742054.1:n.1672+16_1672+17insTTGTT
XM_011516185.1:c.2392+16_2392+17insTTGTT	XP_011514487.1:n.2392+16_2392+17insTTGTT
XM_011516186.1:c.2692+16_2692+17insTTGTT	XP_011514488.1:n.2692+16_2692+17insTTGTT
XM_011516185.2:c.2392+16_2392+17insTTGTT	XP_011514487.1:n.2392+16_2392+17insTTGTT
XM_011516186.3:c.2692+16_2692+17insTTGTT	XP_011514488.1:n.2692+16_2692+17insTTGTT
XM_017012195.1:c.2542+16_2542+17insTTGTT	XP_016867684.1:n.2542+16_2542+17insTTGTT
XM_017012196.1:c.2515+16_2515+17insTTGTT	XP_016867685.1:n.2515+16_2515+17insTTGTT
NM_000238.4:c.2692+16_2692+17insTTGTT MANE Select	NP_000229.1:n.2692+16_2692+17insTTGTT
NM_172057.3:c.1672+16_1672+17insTTGTT	NP_742054.1:n.1672+16_1672+17insTTGTT