Canonical Allele Identifier: CA4566436

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1263793
• ClinVar RCV Id: RCV001674787
• dbSNP Id: rs11462566
• ExAC: 7:150654622 A / AG
• gnomAD v2: 7-150654622-A-AG
• gnomAD v3: 7-150957534-A-AG
• gnomAD v4: 7-150957534-A-AG
• MyVariant Identifiers: chr7:g.150654622_150654623insG (hg19) ; chr7:g.150957534_150957535insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957535dup , CM000669.2:g.150957535dup	GRCh38
NC_000007.13:g.150654623dup , CM000669.1:g.150654623dup	GRCh37
NC_000007.12:g.150285556dup	NCBI36
NG_008916.1:g.25392dup , LRG_288:g.25392dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1750-33dup
ENST00000262186.10:c.917-33dup MANE Select	ENSP00000262186.5:n.917-33dup
ENST00000262186.9:c.917-33dup	ENSP00000262186.5:n.917-33dup
ENST00000430723.4:c.569-33dup	ENSP00000387657.4:n.569-33dup
ENST00000532957.5:n.1140-33dup
NM_000238.3:c.917-33dup , LRG_288t1:c.917-33dup	NP_000229.1:n.917-33dup
NM_172056.2:c.917-33dup , LRG_288t2:c.917-33dup	NP_742053.1:n.917-33dup
XM_011516185.1:c.617-33dup	XP_011514487.1:n.617-33dup
XM_011516186.1:c.917-33dup	XP_011514488.1:n.917-33dup
XM_011516185.2:c.617-33dup	XP_011514487.1:n.617-33dup
XM_011516186.3:c.917-33dup	XP_011514488.1:n.917-33dup
XM_017012195.1:c.767-33dup	XP_016867684.1:n.767-33dup
XM_017012196.1:c.740-33dup	XP_016867685.1:n.740-33dup
NM_000238.4:c.917-33dup MANE Select	NP_000229.1:n.917-33dup