Canonical Allele Identifier: CA835221878

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1567723
• ClinVar RCV Id: RCV002210177
• dbSNP Id: rs749079285
• gnomAD v4: 7-150947598-C-A
• MyVariant Identifiers: chr7:g.150644686C>A (hg19) ; chr7:g.150947598C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947598C>A , CM000669.2:g.150947598C>A	GRCh38
NC_000007.13:g.150644686C>A , CM000669.1:g.150644686C>A	GRCh37
NC_000007.12:g.150275619C>A	NCBI36
NG_008916.1:g.35329G>T , LRG_288:g.35329G>T

Transcript Alleles

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