Canonical Allele Identifier: CA2685602359

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948327-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948327G>T , CM000669.2:g.150948327G>T	GRCh38
NC_000007.13:g.150645415G>T , CM000669.1:g.150645415G>T	GRCh37
NC_000007.12:g.150276348G>T	NCBI36
NG_008916.1:g.34600C>A , LRG_288:g.34600C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+117C>A
ENST00000262186.10:c.2692+117C>A MANE Select	ENSP00000262186.5:n.2692+117C>A
ENST00000330883.9:c.1672+117C>A	ENSP00000328531.4:n.1672+117C>A
ENST00000262186.9:c.2692+117C>A	ENSP00000262186.5:n.2692+117C>A
ENST00000330883.8:c.1672+117C>A	ENSP00000328531.4:n.1672+117C>A
NM_000238.3:c.2692+117C>A , LRG_288t1:c.2692+117C>A	NP_000229.1:n.2692+117C>A
NM_172057.2:c.1672+117C>A , LRG_288t3:c.1672+117C>A	NP_742054.1:n.1672+117C>A
XM_011516185.1:c.2392+117C>A	XP_011514487.1:n.2392+117C>A
XM_011516186.1:c.2692+117C>A	XP_011514488.1:n.2692+117C>A
XM_011516185.2:c.2392+117C>A	XP_011514487.1:n.2392+117C>A
XM_011516186.3:c.2692+117C>A	XP_011514488.1:n.2692+117C>A
XM_017012195.1:c.2542+117C>A	XP_016867684.1:n.2542+117C>A
XM_017012196.1:c.2515+117C>A	XP_016867685.1:n.2515+117C>A
NM_000238.4:c.2692+117C>A MANE Select	NP_000229.1:n.2692+117C>A
NM_172057.3:c.1672+117C>A	NP_742054.1:n.1672+117C>A