Canonical Allele Identifier: CA458871911

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 737012
• ClinVar RCV Id: RCV002427272
• dbSNP Id: rs1398180335
• gnomAD v2: 7-150655244-T-A
• gnomAD v3: 7-150958156-T-A
• gnomAD v4: 7-150958156-T-A
• MyVariant Identifiers: chr7:g.150655244T>A (hg19) ; chr7:g.150958156T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958156T>A , CM000669.2:g.150958156T>A	GRCh38
NC_000007.13:g.150655244T>A , CM000669.1:g.150655244T>A	GRCh37
NC_000007.12:g.150286177T>A	NCBI36
NG_008916.1:g.24771A>T , LRG_288:g.24771A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1652A>T
ENST00000262186.10:c.819A>T MANE Select	ENSP00000262186.5:p.Arg273=
ENST00000262186.9:c.819A>T	ENSP00000262186.5:p.Arg273=
ENST00000430723.4:c.471A>T	ENSP00000387657.4:p.Arg157=
ENST00000532957.5:n.1042A>T
NM_000238.3:c.819A>T , LRG_288t1:c.819A>T	NP_000229.1:p.Arg273=
NM_172056.2:c.819A>T , LRG_288t2:c.819A>T	NP_742053.1:p.Arg273=
XM_011516185.1:c.519A>T	XP_011514487.1:p.Arg173=
XM_011516186.1:c.819A>T	XP_011514488.1:p.Arg273=
XM_011516185.2:c.519A>T	XP_011514487.1:p.Arg173=
XM_011516186.3:c.819A>T	XP_011514488.1:p.Arg273=
XM_017012195.1:c.669A>T	XP_016867684.1:p.Arg223=
XM_017012196.1:c.642A>T	XP_016867685.1:p.Arg214=
NM_000238.4:c.819A>T MANE Select	NP_000229.1:p.Arg273=