Canonical Allele Identifier: CA071997

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1755933
• ClinVar RCV Id: RCV002362226
• dbSNP Id: rs1801450853
• gnomAD v4: 7-150958288-C-T
• MyVariant Identifiers: chr7:g.150655376C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958288C>T , CM000669.2:g.150958288C>T	GRCh38
NC_000007.13:g.150655376C>T , CM000669.1:g.150655376C>T	GRCh37
NC_000007.12:g.150286309C>T	NCBI36
NG_008916.1:g.24639G>A , LRG_288:g.24639G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1520G>A
ENST00000262186.10:c.687G>A MANE Select	ENSP00000262186.5:p.Glu229=
ENST00000262186.9:c.687G>A	ENSP00000262186.5:p.Glu229=
ENST00000430723.4:c.339G>A	ENSP00000387657.4:p.Glu113=
ENST00000532957.5:n.910G>A
NM_000238.3:c.687G>A , LRG_288t1:c.687G>A	NP_000229.1:p.Glu229=
NM_172056.2:c.687G>A , LRG_288t2:c.687G>A	NP_742053.1:p.Glu229=
XM_011516185.1:c.387G>A	XP_011514487.1:p.Glu129=
XM_011516186.1:c.687G>A	XP_011514488.1:p.Glu229=
XM_011516185.2:c.387G>A	XP_011514487.1:p.Glu129=
XM_011516186.3:c.687G>A	XP_011514488.1:p.Glu229=
XM_017012195.1:c.537G>A	XP_016867684.1:p.Glu179=
XM_017012196.1:c.510G>A	XP_016867685.1:p.Glu170=
NM_000238.4:c.687G>A MANE Select	NP_000229.1:p.Glu229=