Canonical Allele Identifier: CA579075197

Gene: KCNH2

Linked Data

• dbSNP Id: rs1800954908
• gnomAD v2: 7-150644686-C-CCTGTCA
• gnomAD v3: 7-150947598-C-CCTGTCA
• gnomAD v4: 7-150947598-C-CCTGTCA
• MyVariant Identifiers: chr7:g.150644686_150644687insCTGTCA (hg19) ; chr7:g.150947598_150947599insCTGTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947598_150947599insCTGTCA , CM000669.2:g.150947598_150947599insCTGTCA	GRCh38
NC_000007.13:g.150644686_150644687insCTGTCA , CM000669.1:g.150644686_150644687insCTGTCA	GRCh37
NC_000007.12:g.150275619_150275620insCTGTCA	NCBI36
NG_008916.1:g.35328_35329insTGACAG , LRG_288:g.35328_35329insTGACAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3798+7_3798+8insTGACAG
ENST00000262186.10:c.2965+7_2965+8insTGACAG MANE Select	ENSP00000262186.5:n.2965+7_2965+8insTGACAG
ENST00000330883.9:c.1945+7_1945+8insTGACAG	ENSP00000328531.4:n.1945+7_1945+8insTGACAG
ENST00000262186.9:c.2965+7_2965+8insTGACAG	ENSP00000262186.5:n.2965+7_2965+8insTGACAG
ENST00000330883.8:c.1945+7_1945+8insTGACAG	ENSP00000328531.4:n.1945+7_1945+8insTGACAG
NM_000238.3:c.2965+7_2965+8insTGACAG , LRG_288t1:c.2965+7_2965+8insTGACAG	NP_000229.1:n.2965+7_2965+8insTGACAG
NM_172057.2:c.1945+7_1945+8insTGACAG , LRG_288t3:c.1945+7_1945+8insTGACAG	NP_742054.1:n.1945+7_1945+8insTGACAG
XM_011516185.1:c.2665+7_2665+8insTGACAG	XP_011514487.1:n.2665+7_2665+8insTGACAG
XM_011516186.1:c.*45+7_*45+8insTGACAG	XP_011514488.1:n.*45+7_*45+8insTGACAG
XM_011516185.2:c.2665+7_2665+8insTGACAG	XP_011514487.1:n.2665+7_2665+8insTGACAG
XM_011516186.3:c.*45+7_*45+8insTGACAG	XP_011514488.1:n.*45+7_*45+8insTGACAG
XM_017012195.1:c.2815+7_2815+8insTGACAG	XP_016867684.1:n.2815+7_2815+8insTGACAG
XM_017012196.1:c.2788+7_2788+8insTGACAG	XP_016867685.1:n.2788+7_2788+8insTGACAG
NM_000238.4:c.2965+7_2965+8insTGACAG MANE Select	NP_000229.1:n.2965+7_2965+8insTGACAG
NM_172057.3:c.1945+7_1945+8insTGACAG	NP_742054.1:n.1945+7_1945+8insTGACAG