Canonical Allele Identifier: CA16605083

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 377952
• ClinVar RCV Id: RCV000432925 ; RCV000551700 ; RCV002429355
• dbSNP Id: rs552583527
• gnomAD v2: 7-150655246-G-T
• gnomAD v3: 7-150958158-G-T
• gnomAD v4: 7-150958158-G-T
• MyVariant Identifiers: chr7:g.150655246G>T (hg19) ; chr7:g.150958158G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958158G>T , CM000669.2:g.150958158G>T	GRCh38
NC_000007.13:g.150655246G>T , CM000669.1:g.150655246G>T	GRCh37
NC_000007.12:g.150286179G>T	NCBI36
NG_008916.1:g.24769C>A , LRG_288:g.24769C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1650C>A
ENST00000262186.10:c.817C>A MANE Select	ENSP00000262186.5:p.Arg273=
ENST00000262186.9:c.817C>A	ENSP00000262186.5:p.Arg273=
ENST00000430723.4:c.469C>A	ENSP00000387657.4:p.Arg157=
ENST00000532957.5:n.1040C>A
NM_000238.3:c.817C>A , LRG_288t1:c.817C>A	NP_000229.1:p.Arg273=
NM_172056.2:c.817C>A , LRG_288t2:c.817C>A	NP_742053.1:p.Arg273=
XM_011516185.1:c.517C>A	XP_011514487.1:p.Arg173=
XM_011516186.1:c.817C>A	XP_011514488.1:p.Arg273=
XM_011516185.2:c.517C>A	XP_011514487.1:p.Arg173=
XM_011516186.3:c.817C>A	XP_011514488.1:p.Arg273=
XM_017012195.1:c.667C>A	XP_016867684.1:p.Arg223=
XM_017012196.1:c.640C>A	XP_016867685.1:p.Arg214=
NM_000238.4:c.817C>A MANE Select	NP_000229.1:p.Arg273=