Canonical Allele Identifier: CA458871825

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958111-G-T
• MyVariant Identifiers: chr7:g.150655199G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958111G>T , CM000669.2:g.150958111G>T	GRCh38
NC_000007.13:g.150655199G>T , CM000669.1:g.150655199G>T	GRCh37
NC_000007.12:g.150286132G>T	NCBI36
NG_008916.1:g.24816C>A , LRG_288:g.24816C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1697C>A
ENST00000262186.10:c.864C>A MANE Select	ENSP00000262186.5:p.Ile288=
ENST00000262186.9:c.864C>A	ENSP00000262186.5:p.Ile288=
ENST00000430723.4:c.516C>A	ENSP00000387657.4:p.Ile172=
ENST00000532957.5:n.1087C>A
NM_000238.3:c.864C>A , LRG_288t1:c.864C>A	NP_000229.1:p.Ile288=
NM_172056.2:c.864C>A , LRG_288t2:c.864C>A	NP_742053.1:p.Ile288=
XM_011516185.1:c.564C>A	XP_011514487.1:p.Ile188=
XM_011516186.1:c.864C>A	XP_011514488.1:p.Ile288=
XM_011516185.2:c.564C>A	XP_011514487.1:p.Ile188=
XM_011516186.3:c.864C>A	XP_011514488.1:p.Ile288=
XM_017012195.1:c.714C>A	XP_016867684.1:p.Ile238=
XM_017012196.1:c.687C>A	XP_016867685.1:p.Ile229=
NM_000238.4:c.864C>A MANE Select	NP_000229.1:p.Ile288=