Canonical Allele Identifier: CA458871414

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 921194
• ClinVar RCV Id: RCV001843064 ; RCV004006656
• dbSNP Id: rs1801094386
• gnomAD v4: 7-150950370-C-A
• MyVariant Identifiers: chr7:g.150647458C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950370C>A , CM000669.2:g.150950370C>A	GRCh38
NC_000007.13:g.150647458C>A , CM000669.1:g.150647458C>A	GRCh37
NC_000007.12:g.150278391C>A	NCBI36
NG_008916.1:g.32557G>T , LRG_288:g.32557G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1494G>T
ENST00000684241.1:n.3029G>T
ENST00000262186.10:c.2196G>T MANE Select	ENSP00000262186.5:p.Leu732=
ENST00000330883.9:c.1176G>T	ENSP00000328531.4:p.Leu392=
ENST00000262186.9:c.2196G>T	ENSP00000262186.5:p.Leu732=
ENST00000330883.8:c.1176G>T	ENSP00000328531.4:p.Leu392=
ENST00000430723.4:c.1848G>T	ENSP00000387657.4:p.Leu616=
ENST00000461280.1:n.1483G>T
ENST00000473610.5:n.1828G>T
ENST00000532957.5:n.2419G>T
NM_000238.3:c.2196G>T , LRG_288t1:c.2196G>T	NP_000229.1:p.Leu732=
NM_001204798.1:c.1176G>T	NP_001191727.1:p.Leu392=
NM_172056.2:c.2196G>T , LRG_288t2:c.2196G>T	NP_742053.1:p.Leu732=
NM_172057.2:c.1176G>T , LRG_288t3:c.1176G>T	NP_742054.1:p.Leu392=
XM_011516185.1:c.1896G>T	XP_011514487.1:p.Leu632=
XM_011516186.1:c.2196G>T	XP_011514488.1:p.Leu732=
XM_011516185.2:c.1896G>T	XP_011514487.1:p.Leu632=
XM_011516186.3:c.2196G>T	XP_011514488.1:p.Leu732=
XM_017012195.1:c.2046G>T	XP_016867684.1:p.Leu682=
XM_017012196.1:c.2019G>T	XP_016867685.1:p.Leu673=
NM_000238.4:c.2196G>T MANE Select	NP_000229.1:p.Leu732=
NM_001204798.2:c.1176G>T	NP_001191727.1:p.Leu392=
NM_172057.3:c.1176G>T	NP_742054.1:p.Leu392=