Canonical Allele Identifier: CA369865476

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150974770-G-T
• MyVariant Identifiers: chr7:g.150671858G>T (hg19) ; chr7:g.150974770G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974770G>T , CM000669.2:g.150974770G>T	GRCh38
NC_000007.13:g.150671858G>T , CM000669.1:g.150671858G>T	GRCh37
NC_000007.12:g.150302791G>T	NCBI36
NG_008916.1:g.8157C>A , LRG_288:g.8157C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.248C>A MANE Select	ENSP00000262186.5:p.Ala83Glu
ENST00000262186.9:c.248C>A	ENSP00000262186.5:p.Ala83Glu
ENST00000430723.4:c.71C>A	ENSP00000387657.4:p.Ala24Glu
ENST00000532957.5:n.471C>A
NM_000238.3:c.248C>A , LRG_288t1:c.248C>A	NP_000229.1:p.Ala83Glu
NM_172056.2:c.248C>A , LRG_288t2:c.248C>A	NP_742053.1:p.Ala83Glu
XM_011516186.1:c.248C>A	XP_011514488.1:p.Ala83Glu
XM_011516186.3:c.248C>A	XP_011514488.1:p.Ala83Glu
XM_017012196.1:c.71C>A	XP_016867685.1:p.Ala24Glu
NM_000238.4:c.248C>A MANE Select	NP_000229.1:p.Ala83Glu