Canonical Allele Identifier: CA458645414

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 519538
• ClinVar RCV Id: RCV000621547 ; RCV002066949
• dbSNP Id: rs1554425500
• MyVariant Identifiers: chr7:g.150648117C>T (hg19) ; chr7:g.150951029C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951029C>T , CM000669.2:g.150951029C>T	GRCh38
NC_000007.13:g.150648117C>T , CM000669.1:g.150648117C>T	GRCh37
NC_000007.12:g.150279050C>T	NCBI36
NG_008916.1:g.31898G>A , LRG_288:g.31898G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1335G>A
ENST00000683359.1:n.161G>A
ENST00000684241.1:n.2870G>A
ENST00000262186.10:c.2037G>A MANE Select	ENSP00000262186.5:p.Arg679=
ENST00000330883.9:c.1017G>A	ENSP00000328531.4:p.Arg339=
ENST00000262186.9:c.2037G>A	ENSP00000262186.5:p.Arg679=
ENST00000330883.8:c.1017G>A	ENSP00000328531.4:p.Arg339=
ENST00000430723.4:c.1689G>A	ENSP00000387657.4:p.Arg563=
ENST00000461280.1:n.1324G>A
ENST00000473610.5:n.1669G>A
ENST00000532957.5:n.2260G>A
NM_000238.3:c.2037G>A , LRG_288t1:c.2037G>A	NP_000229.1:p.Arg679=
NM_001204798.1:c.1017G>A	NP_001191727.1:p.Arg339=
NM_172056.2:c.2037G>A , LRG_288t2:c.2037G>A	NP_742053.1:p.Arg679=
NM_172057.2:c.1017G>A , LRG_288t3:c.1017G>A	NP_742054.1:p.Arg339=
XM_011516185.1:c.1737G>A	XP_011514487.1:p.Arg579=
XM_011516186.1:c.2037G>A	XP_011514488.1:p.Arg679=
XM_011516185.2:c.1737G>A	XP_011514487.1:p.Arg579=
XM_011516186.3:c.2037G>A	XP_011514488.1:p.Arg679=
XM_017012195.1:c.1887G>A	XP_016867684.1:p.Arg629=
XM_017012196.1:c.1860G>A	XP_016867685.1:p.Arg620=
NM_000238.4:c.2037G>A MANE Select	NP_000229.1:p.Arg679=
NM_001204798.2:c.1017G>A	NP_001191727.1:p.Arg339=
NM_172057.3:c.1017G>A	NP_742054.1:p.Arg339=