Canonical Allele Identifier: CA458871475

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2123230
• ClinVar RCV Id: RCV003054972
• gnomAD v4: 7-150951503-G-C
• MyVariant Identifiers: chr7:g.150648591G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951503G>C , CM000669.2:g.150951503G>C	GRCh38
NC_000007.13:g.150648591G>C , CM000669.1:g.150648591G>C	GRCh37
NC_000007.12:g.150279524G>C	NCBI36
NG_008916.1:g.31424C>G , LRG_288:g.31424C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1188C>G
ENST00000683359.1:n.14C>G
ENST00000684241.1:n.2723C>G
ENST00000262186.10:c.1890C>G MANE Select	ENSP00000262186.5:p.Val630=
ENST00000330883.9:c.870C>G	ENSP00000328531.4:p.Val290=
ENST00000262186.9:c.1890C>G	ENSP00000262186.5:p.Val630=
ENST00000330883.8:c.870C>G	ENSP00000328531.4:p.Val290=
ENST00000430723.4:c.1542C>G	ENSP00000387657.4:p.Val514=
ENST00000461280.1:n.1177C>G
ENST00000473610.5:n.1195C>G
ENST00000532957.5:n.2113C>G
NM_000238.3:c.1890C>G , LRG_288t1:c.1890C>G	NP_000229.1:p.Val630=
NM_001204798.1:c.870C>G	NP_001191727.1:p.Val290=
NM_172056.2:c.1890C>G , LRG_288t2:c.1890C>G	NP_742053.1:p.Val630=
NM_172057.2:c.870C>G , LRG_288t3:c.870C>G	NP_742054.1:p.Val290=
XM_011516185.1:c.1590C>G	XP_011514487.1:p.Val530=
XM_011516186.1:c.1890C>G	XP_011514488.1:p.Val630=
XM_011516185.2:c.1590C>G	XP_011514487.1:p.Val530=
XM_011516186.3:c.1890C>G	XP_011514488.1:p.Val630=
XM_017012195.1:c.1740C>G	XP_016867684.1:p.Val580=
XM_017012196.1:c.1713C>G	XP_016867685.1:p.Val571=
NM_000238.4:c.1890C>G MANE Select	NP_000229.1:p.Val630=
NM_001204798.2:c.870C>G	NP_001191727.1:p.Val290=
NM_172057.3:c.870C>G	NP_742054.1:p.Val290=