Canonical Allele Identifier: CA2685602110

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947590-C-CCG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947591_150947592dup , CM000669.2:g.150947591_150947592dup	GRCh38
NC_000007.13:g.150644679_150644680dup , CM000669.1:g.150644679_150644680dup	GRCh37
NC_000007.12:g.150275612_150275613dup	NCBI36
NG_008916.1:g.35335_35336dup , LRG_288:g.35335_35336dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3798+14_3798+15dup
ENST00000262186.10:c.2965+14_2965+15dup MANE Select	ENSP00000262186.5:n.2965+14_2965+15dup
ENST00000330883.9:c.1945+14_1945+15dup	ENSP00000328531.4:n.1945+14_1945+15dup
ENST00000262186.9:c.2965+14_2965+15dup	ENSP00000262186.5:n.2965+14_2965+15dup
ENST00000330883.8:c.1945+14_1945+15dup	ENSP00000328531.4:n.1945+14_1945+15dup
NM_000238.3:c.2965+14_2965+15dup , LRG_288t1:c.2965+14_2965+15dup	NP_000229.1:n.2965+14_2965+15dup
NM_172057.2:c.1945+14_1945+15dup , LRG_288t3:c.1945+14_1945+15dup	NP_742054.1:n.1945+14_1945+15dup
XM_011516185.1:c.2665+14_2665+15dup	XP_011514487.1:n.2665+14_2665+15dup
XM_011516186.1:c.*45+14_*45+15dup	XP_011514488.1:n.*45+14_*45+15dup
XM_011516185.2:c.2665+14_2665+15dup	XP_011514487.1:n.2665+14_2665+15dup
XM_011516186.3:c.*45+14_*45+15dup	XP_011514488.1:n.*45+14_*45+15dup
XM_017012195.1:c.2815+14_2815+15dup	XP_016867684.1:n.2815+14_2815+15dup
XM_017012196.1:c.2788+14_2788+15dup	XP_016867685.1:n.2788+14_2788+15dup
NM_000238.4:c.2965+14_2965+15dup MANE Select	NP_000229.1:n.2965+14_2965+15dup
NM_172057.3:c.1945+14_1945+15dup	NP_742054.1:n.1945+14_1945+15dup