Canonical Allele Identifier: CA369853833

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 456914
• ClinVar RCV Id: RCV000551239 ; RCV000786143
• dbSNP Id: rs1554424688
• gnomAD v4: 7-150948510-C-T
• MyVariant Identifiers: chr7:g.150645598C>T (hg19) ; chr7:g.150948510C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948510C>T , CM000669.2:g.150948510C>T	GRCh38
NC_000007.13:g.150645598C>T , CM000669.1:g.150645598C>T	GRCh37
NC_000007.12:g.150276531C>T	NCBI36
NG_008916.1:g.34417G>A , LRG_288:g.34417G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3459G>A
ENST00000262186.10:c.2626G>A MANE Select	ENSP00000262186.5:p.Glu876Lys
ENST00000330883.9:c.1606G>A	ENSP00000328531.4:p.Glu536Lys
ENST00000262186.9:c.2626G>A	ENSP00000262186.5:p.Glu876Lys
ENST00000330883.8:c.1606G>A	ENSP00000328531.4:p.Glu536Lys
NM_000238.3:c.2626G>A , LRG_288t1:c.2626G>A	NP_000229.1:p.Glu876Lys
NM_172057.2:c.1606G>A , LRG_288t3:c.1606G>A	NP_742054.1:p.Glu536Lys
XM_011516185.1:c.2326G>A	XP_011514487.1:p.Glu776Lys
XM_011516186.1:c.2626G>A	XP_011514488.1:p.Glu876Lys
XM_011516185.2:c.2326G>A	XP_011514487.1:p.Glu776Lys
XM_011516186.3:c.2626G>A	XP_011514488.1:p.Glu876Lys
XM_017012195.1:c.2476G>A	XP_016867684.1:p.Glu826Lys
XM_017012196.1:c.2449G>A	XP_016867685.1:p.Glu817Lys
NM_000238.4:c.2626G>A MANE Select	NP_000229.1:p.Glu876Lys
NM_172057.3:c.1606G>A	NP_742054.1:p.Glu536Lys