Canonical Allele Identifier: CA006718

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67398
• ClinVar RCV Id: RCV000058120 ; RCV000181863 ; RCV001362440 ; RCV003162443
• dbSNP Id: rs199473000
• MyVariant Identifiers: chr7:g.150646119C>T (hg19) ; chr7:g.150949031C>T (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949031C>T , CM000669.2:g.150949031C>T	GRCh38
NC_000007.13:g.150646119C>T , CM000669.1:g.150646119C>T	GRCh37
NC_000007.12:g.150277052C>T	NCBI36
NG_008916.1:g.33896G>A , LRG_288:g.33896G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3250G>A
ENST00000262186.10:c.2417G>A MANE Select	ENSP00000262186.5:p.Gly806Glu
ENST00000330883.9:c.1397G>A	ENSP00000328531.4:p.Gly466Glu
ENST00000262186.9:c.2417G>A	ENSP00000262186.5:p.Gly806Glu
ENST00000330883.8:c.1397G>A	ENSP00000328531.4:p.Gly466Glu
NM_000238.3:c.2417G>A , LRG_288t1:c.2417G>A	NP_000229.1:p.Gly806Glu
NM_172057.2:c.1397G>A , LRG_288t3:c.1397G>A	NP_742054.1:p.Gly466Glu
XM_011516185.1:c.2117G>A	XP_011514487.1:p.Gly706Glu
XM_011516186.1:c.2417G>A	XP_011514488.1:p.Gly806Glu
XM_011516185.2:c.2117G>A	XP_011514487.1:p.Gly706Glu
XM_011516186.3:c.2417G>A	XP_011514488.1:p.Gly806Glu
XM_017012195.1:c.2267G>A	XP_016867684.1:p.Gly756Glu
XM_017012196.1:c.2240G>A	XP_016867685.1:p.Gly747Glu
NM_000238.4:c.2417G>A MANE Select	NP_000229.1:p.Gly806Glu
NM_172057.3:c.1397G>A	NP_742054.1:p.Gly466Glu