Canonical Allele Identifier: CA2685602103

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947580-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947580C>A , CM000669.2:g.150947580C>A	GRCh38
NC_000007.13:g.150644668C>A , CM000669.1:g.150644668C>A	GRCh37
NC_000007.12:g.150275601C>A	NCBI36
NG_008916.1:g.35347G>T , LRG_288:g.35347G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3798+26G>T
ENST00000262186.10:c.2965+26G>T MANE Select	ENSP00000262186.5:n.2965+26G>T
ENST00000330883.9:c.1945+26G>T	ENSP00000328531.4:n.1945+26G>T
ENST00000262186.9:c.2965+26G>T	ENSP00000262186.5:n.2965+26G>T
ENST00000330883.8:c.1945+26G>T	ENSP00000328531.4:n.1945+26G>T
NM_000238.3:c.2965+26G>T , LRG_288t1:c.2965+26G>T	NP_000229.1:n.2965+26G>T
NM_172057.2:c.1945+26G>T , LRG_288t3:c.1945+26G>T	NP_742054.1:n.1945+26G>T
XM_011516185.1:c.2665+26G>T	XP_011514487.1:n.2665+26G>T
XM_011516186.1:c.*45+26G>T	XP_011514488.1:n.*45+26G>T
XM_011516185.2:c.2665+26G>T	XP_011514487.1:n.2665+26G>T
XM_011516186.3:c.*45+26G>T	XP_011514488.1:n.*45+26G>T
XM_017012195.1:c.2815+26G>T	XP_016867684.1:n.2815+26G>T
XM_017012196.1:c.2788+26G>T	XP_016867685.1:n.2788+26G>T
NM_000238.4:c.2965+26G>T MANE Select	NP_000229.1:n.2965+26G>T
NM_172057.3:c.1945+26G>T	NP_742054.1:n.1945+26G>T