Canonical Allele Identifier: CA16042695

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 372376
• ClinVar RCV Id: RCV000413351 ; RCV000686182 ; RCV002348126
• dbSNP Id: rs1057517742
• gnomAD v4: 7-150958430-G-T
• MyVariant Identifiers: chr7:g.150655518G>T (hg19) ; chr7:g.150958430G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958430G>T , CM000669.2:g.150958430G>T	GRCh38
NC_000007.13:g.150655518G>T , CM000669.1:g.150655518G>T	GRCh37
NC_000007.12:g.150286451G>T	NCBI36
NG_008916.1:g.24497C>A , LRG_288:g.24497C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1378C>A
ENST00000262186.10:c.545C>A MANE Select	ENSP00000262186.5:p.Ser182Ter
ENST00000262186.9:c.545C>A	ENSP00000262186.5:p.Ser182Ter
ENST00000430723.4:c.235-38C>A	ENSP00000387657.4:n.235-38C>A
ENST00000532957.5:n.768C>A
NM_000238.3:c.545C>A , LRG_288t1:c.545C>A	NP_000229.1:p.Ser182Ter
NM_172056.2:c.545C>A , LRG_288t2:c.545C>A	NP_742053.1:p.Ser182Ter
XM_011516185.1:c.245C>A	XP_011514487.1:p.Ser82Ter
XM_011516186.1:c.545C>A	XP_011514488.1:p.Ser182Ter
XM_011516185.2:c.245C>A	XP_011514487.1:p.Ser82Ter
XM_011516186.3:c.545C>A	XP_011514488.1:p.Ser182Ter
XM_017012195.1:c.395C>A	XP_016867684.1:p.Ser132Ter
XM_017012196.1:c.368C>A	XP_016867685.1:p.Ser123Ter
NM_000238.4:c.545C>A MANE Select	NP_000229.1:p.Ser182Ter