Canonical Allele Identifier: CA369862854

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2141918
• ClinVar RCV Id: RCV003058791
• gnomAD v4: 7-150958295-G-T
• MyVariant Identifiers: chr7:g.150655383G>T (hg19) ; chr7:g.150958295G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958295G>T , CM000669.2:g.150958295G>T	GRCh38
NC_000007.13:g.150655383G>T , CM000669.1:g.150655383G>T	GRCh37
NC_000007.12:g.150286316G>T	NCBI36
NG_008916.1:g.24632C>A , LRG_288:g.24632C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1513C>A
ENST00000262186.10:c.680C>A MANE Select	ENSP00000262186.5:p.Pro227His
ENST00000262186.9:c.680C>A	ENSP00000262186.5:p.Pro227His
ENST00000430723.4:c.332C>A	ENSP00000387657.4:p.Pro111His
ENST00000532957.5:n.903C>A
NM_000238.3:c.680C>A , LRG_288t1:c.680C>A	NP_000229.1:p.Pro227His
NM_172056.2:c.680C>A , LRG_288t2:c.680C>A	NP_742053.1:p.Pro227His
XM_011516185.1:c.380C>A	XP_011514487.1:p.Pro127His
XM_011516186.1:c.680C>A	XP_011514488.1:p.Pro227His
XM_011516185.2:c.380C>A	XP_011514487.1:p.Pro127His
XM_011516186.3:c.680C>A	XP_011514488.1:p.Pro227His
XM_017012195.1:c.530C>A	XP_016867684.1:p.Pro177His
XM_017012196.1:c.503C>A	XP_016867685.1:p.Pro168His
NM_000238.4:c.680C>A MANE Select	NP_000229.1:p.Pro227His