Canonical Allele Identifier: CA072164

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 701607
• ClinVar RCV Id: RCV000870210 ; RCV001162647 ; RCV002372458
• dbSNP Id: rs915031143
• gnomAD v2: 7-150655199-G-A
• gnomAD v3: 7-150958111-G-A
• gnomAD v4: 7-150958111-G-A
• MyVariant Identifiers: chr7:g.150655199G>A (hg19) ; chr7:g.150958111G>A (hg38)

Genomic Alleles

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

Transcript Alleles

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