Canonical Allele Identifier: CA008845

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200304
• ClinVar RCV Id: RCV000181768 ; RCV001852290
• dbSNP Id: rs794728361
• gnomAD v2: 7-150655251-C-T
• gnomAD v4: 7-150958163-C-T
• MyVariant Identifiers: chr7:g.150655251C>T (hg19) ; chr7:g.150958163C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958163C>T , CM000669.2:g.150958163C>T	GRCh38
NC_000007.13:g.150655251C>T , CM000669.1:g.150655251C>T	GRCh37
NC_000007.12:g.150286184C>T	NCBI36
NG_008916.1:g.24764G>A , LRG_288:g.24764G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1645G>A
ENST00000262186.10:c.812G>A MANE Select	ENSP00000262186.5:p.Arg271His
ENST00000262186.9:c.812G>A	ENSP00000262186.5:p.Arg271His
ENST00000430723.4:c.464G>A	ENSP00000387657.4:p.Arg155His
ENST00000532957.5:n.1035G>A
NM_000238.3:c.812G>A , LRG_288t1:c.812G>A	NP_000229.1:p.Arg271His
NM_172056.2:c.812G>A , LRG_288t2:c.812G>A	NP_742053.1:p.Arg271His
XM_011516185.1:c.512G>A	XP_011514487.1:p.Arg171His
XM_011516186.1:c.812G>A	XP_011514488.1:p.Arg271His
XM_011516185.2:c.512G>A	XP_011514487.1:p.Arg171His
XM_011516186.3:c.812G>A	XP_011514488.1:p.Arg271His
XM_017012195.1:c.662G>A	XP_016867684.1:p.Arg221His
XM_017012196.1:c.635G>A	XP_016867685.1:p.Arg212His
NM_000238.4:c.812G>A MANE Select	NP_000229.1:p.Arg271His