Canonical Allele Identifier: CA369862839

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1427406
• ClinVar RCV Id: RCV001933691
• dbSNP Id: rs730880116
• gnomAD v4: 7-150958290-C-T
• MyVariant Identifiers: chr7:g.150655378C>T (hg19) ; chr7:g.150958290C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958290C>T , CM000669.2:g.150958290C>T	GRCh38
NC_000007.13:g.150655378C>T , CM000669.1:g.150655378C>T	GRCh37
NC_000007.12:g.150286311C>T	NCBI36
NG_008916.1:g.24637G>A , LRG_288:g.24637G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1518G>A
ENST00000262186.10:c.685G>A MANE Select	ENSP00000262186.5:p.Glu229Lys
ENST00000262186.9:c.685G>A	ENSP00000262186.5:p.Glu229Lys
ENST00000430723.4:c.337G>A	ENSP00000387657.4:p.Glu113Lys
ENST00000532957.5:n.908G>A
NM_000238.3:c.685G>A , LRG_288t1:c.685G>A	NP_000229.1:p.Glu229Lys
NM_172056.2:c.685G>A , LRG_288t2:c.685G>A	NP_742053.1:p.Glu229Lys
XM_011516185.1:c.385G>A	XP_011514487.1:p.Glu129Lys
XM_011516186.1:c.685G>A	XP_011514488.1:p.Glu229Lys
XM_011516185.2:c.385G>A	XP_011514487.1:p.Glu129Lys
XM_011516186.3:c.685G>A	XP_011514488.1:p.Glu229Lys
XM_017012195.1:c.535G>A	XP_016867684.1:p.Glu179Lys
XM_017012196.1:c.508G>A	XP_016867685.1:p.Glu170Lys
NM_000238.4:c.685G>A MANE Select	NP_000229.1:p.Glu229Lys