Canonical Allele Identifier: CA369861439

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 3070729
• ClinVar RCV Id: RCV004013239
• gnomAD v4: 7-150957305-C-T
• MyVariant Identifiers: chr7:g.150654393C>T (hg19) ; chr7:g.150957305C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957305C>T , CM000669.2:g.150957305C>T	GRCh38
NC_000007.13:g.150654393C>T , CM000669.1:g.150654393C>T	GRCh37
NC_000007.12:g.150285326C>T	NCBI36
NG_008916.1:g.25622G>A , LRG_288:g.25622G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1947G>A
ENST00000262186.10:c.1114G>A MANE Select	ENSP00000262186.5:p.Glu372Lys
ENST00000262186.9:c.1114G>A	ENSP00000262186.5:p.Glu372Lys
ENST00000430723.4:c.766G>A	ENSP00000387657.4:p.Glu256Lys
ENST00000532957.5:n.1337G>A
NM_000238.3:c.1114G>A , LRG_288t1:c.1114G>A	NP_000229.1:p.Glu372Lys
NM_172056.2:c.1114G>A , LRG_288t2:c.1114G>A	NP_742053.1:p.Glu372Lys
XM_011516185.1:c.814G>A	XP_011514487.1:p.Glu272Lys
XM_011516186.1:c.1114G>A	XP_011514488.1:p.Glu372Lys
XM_011516185.2:c.814G>A	XP_011514487.1:p.Glu272Lys
XM_011516186.3:c.1114G>A	XP_011514488.1:p.Glu372Lys
XM_017012195.1:c.964G>A	XP_016867684.1:p.Glu322Lys
XM_017012196.1:c.937G>A	XP_016867685.1:p.Glu313Lys
NM_000238.4:c.1114G>A MANE Select	NP_000229.1:p.Glu372Lys