Canonical Allele Identifier: CA036011

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1623711
• ClinVar RCV Id: RCV002110264
• dbSNP Id: rs749079285
• ExAC: 7:150644686 C / T
• gnomAD v2: 7-150644686-C-T
• gnomAD v4: 7-150947598-C-T
• MyVariant Identifiers: chr7:g.150644686C>T (hg19) ; chr7:g.150947598C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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