Canonical Allele Identifier: CA035792

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2730894
• ClinVar RCV Id: RCV003531484
• dbSNP Id: rs763832924
• ExAC: 7:150644675 C / T
• gnomAD v2: 7-150644675-C-T
• gnomAD v3: 7-150947587-C-T
• gnomAD v4: 7-150947587-C-T
• MyVariant Identifiers: chr7:g.150644675C>T (hg19) ; chr7:g.150947587C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947587C>T , CM000669.2:g.150947587C>T	GRCh38
NC_000007.13:g.150644675C>T , CM000669.1:g.150644675C>T	GRCh37
NC_000007.12:g.150275608C>T	NCBI36
NG_008916.1:g.35340G>A , LRG_288:g.35340G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3798+19G>A
ENST00000262186.10:c.2965+19G>A MANE Select	ENSP00000262186.5:n.2965+19G>A
ENST00000330883.9:c.1945+19G>A	ENSP00000328531.4:n.1945+19G>A
ENST00000262186.9:c.2965+19G>A	ENSP00000262186.5:n.2965+19G>A
ENST00000330883.8:c.1945+19G>A	ENSP00000328531.4:n.1945+19G>A
NM_000238.3:c.2965+19G>A , LRG_288t1:c.2965+19G>A	NP_000229.1:n.2965+19G>A
NM_172057.2:c.1945+19G>A , LRG_288t3:c.1945+19G>A	NP_742054.1:n.1945+19G>A
XM_011516185.1:c.2665+19G>A	XP_011514487.1:n.2665+19G>A
XM_011516186.1:c.*45+19G>A	XP_011514488.1:n.*45+19G>A
XM_011516185.2:c.2665+19G>A	XP_011514487.1:n.2665+19G>A
XM_011516186.3:c.*45+19G>A	XP_011514488.1:n.*45+19G>A
XM_017012195.1:c.2815+19G>A	XP_016867684.1:n.2815+19G>A
XM_017012196.1:c.2788+19G>A	XP_016867685.1:n.2788+19G>A
NM_000238.4:c.2965+19G>A MANE Select	NP_000229.1:n.2965+19G>A
NM_172057.3:c.1945+19G>A	NP_742054.1:n.1945+19G>A