Canonical Allele Identifier: CA369865533

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1197726
• ClinVar RCV Id: RCV001561645 ; RCV002471123
• dbSNP Id: rs199472848
• gnomAD v4: 7-150974786-C-T
• MyVariant Identifiers: chr7:g.150671874C>T (hg19) ; chr7:g.150974786C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974786C>T , CM000669.2:g.150974786C>T	GRCh38
NC_000007.13:g.150671874C>T , CM000669.1:g.150671874C>T	GRCh37
NC_000007.12:g.150302807C>T	NCBI36
NG_008916.1:g.8141G>A , LRG_288:g.8141G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.232G>A MANE Select	ENSP00000262186.5:p.Ala78Thr
ENST00000262186.9:c.232G>A	ENSP00000262186.5:p.Ala78Thr
ENST00000430723.4:c.55G>A	ENSP00000387657.4:p.Ala19Thr
ENST00000532957.5:n.455G>A
NM_000238.3:c.232G>A , LRG_288t1:c.232G>A	NP_000229.1:p.Ala78Thr
NM_172056.2:c.232G>A , LRG_288t2:c.232G>A	NP_742053.1:p.Ala78Thr
XM_011516186.1:c.232G>A	XP_011514488.1:p.Ala78Thr
XM_011516186.3:c.232G>A	XP_011514488.1:p.Ala78Thr
XM_017012196.1:c.55G>A	XP_016867685.1:p.Ala19Thr
NM_000238.4:c.232G>A MANE Select	NP_000229.1:p.Ala78Thr