Canonical Allele Identifier: CA369862692

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1758143
• ClinVar RCV Id: RCV002382718 ; RCV003103385
• gnomAD v4: 7-150958246-G-T
• MyVariant Identifiers: chr7:g.150655334G>T (hg19) ; chr7:g.150958246G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958246G>T , CM000669.2:g.150958246G>T	GRCh38
NC_000007.13:g.150655334G>T , CM000669.1:g.150655334G>T	GRCh37
NC_000007.12:g.150286267G>T	NCBI36
NG_008916.1:g.24681C>A , LRG_288:g.24681C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1562C>A
ENST00000262186.10:c.729C>A MANE Select	ENSP00000262186.5:p.Ser243Arg
ENST00000262186.9:c.729C>A	ENSP00000262186.5:p.Ser243Arg
ENST00000430723.4:c.381C>A	ENSP00000387657.4:p.Ser127Arg
ENST00000532957.5:n.952C>A
NM_000238.3:c.729C>A , LRG_288t1:c.729C>A	NP_000229.1:p.Ser243Arg
NM_172056.2:c.729C>A , LRG_288t2:c.729C>A	NP_742053.1:p.Ser243Arg
XM_011516185.1:c.429C>A	XP_011514487.1:p.Ser143Arg
XM_011516186.1:c.729C>A	XP_011514488.1:p.Ser243Arg
XM_011516185.2:c.429C>A	XP_011514487.1:p.Ser143Arg
XM_011516186.3:c.729C>A	XP_011514488.1:p.Ser243Arg
XM_017012195.1:c.579C>A	XP_016867684.1:p.Ser193Arg
XM_017012196.1:c.552C>A	XP_016867685.1:p.Ser184Arg
NM_000238.4:c.729C>A MANE Select	NP_000229.1:p.Ser243Arg