Canonical Allele Identifier: CA169081268

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1203189
• ClinVar RCV Id: RCV001569137 ; RCV002568451
• dbSNP Id: rs199472874
• gnomAD v2: 7-150655309-G-T
• gnomAD v3: 7-150958221-G-T
• gnomAD v4: 7-150958221-G-T
• MyVariant Identifiers: chr7:g.150655309G>T (hg19) ; chr7:g.150958221G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958221G>T , CM000669.2:g.150958221G>T	GRCh38
NC_000007.13:g.150655309G>T , CM000669.1:g.150655309G>T	GRCh37
NC_000007.12:g.150286242G>T	NCBI36
NG_008916.1:g.24706C>A , LRG_288:g.24706C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1587C>A
ENST00000262186.10:c.754C>A MANE Select	ENSP00000262186.5:p.Arg252=
ENST00000262186.9:c.754C>A	ENSP00000262186.5:p.Arg252=
ENST00000430723.4:c.406C>A	ENSP00000387657.4:p.Arg136=
ENST00000532957.5:n.977C>A
NM_000238.3:c.754C>A , LRG_288t1:c.754C>A	NP_000229.1:p.Arg252=
NM_172056.2:c.754C>A , LRG_288t2:c.754C>A	NP_742053.1:p.Arg252=
XM_011516185.1:c.454C>A	XP_011514487.1:p.Arg152=
XM_011516186.1:c.754C>A	XP_011514488.1:p.Arg252=
XM_011516185.2:c.454C>A	XP_011514487.1:p.Arg152=
XM_011516186.3:c.754C>A	XP_011514488.1:p.Arg252=
XM_017012195.1:c.604C>A	XP_016867684.1:p.Arg202=
XM_017012196.1:c.577C>A	XP_016867685.1:p.Arg193=
NM_000238.4:c.754C>A MANE Select	NP_000229.1:p.Arg252=