Canonical Allele Identifier: CA005488

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67274
• ClinVar RCV Id: RCV000057990 ; RCV000181819
• dbSNP Id: rs199472933
• MyVariant Identifiers: chr7:g.150648694G>T (hg19) ; chr7:g.150951606G>T (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951606G>T , CM000669.2:g.150951606G>T	GRCh38
NC_000007.13:g.150648694G>T , CM000669.1:g.150648694G>T	GRCh37
NC_000007.12:g.150279627G>T	NCBI36
NG_008916.1:g.31321C>A , LRG_288:g.31321C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1085C>A
ENST00000684241.1:n.2620C>A
ENST00000262186.10:c.1787C>A MANE Select	ENSP00000262186.5:p.Pro596His
ENST00000330883.9:c.767C>A	ENSP00000328531.4:p.Pro256His
ENST00000262186.9:c.1787C>A	ENSP00000262186.5:p.Pro596His
ENST00000330883.8:c.767C>A	ENSP00000328531.4:p.Pro256His
ENST00000430723.4:c.1439C>A	ENSP00000387657.4:p.Pro480His
ENST00000461280.1:n.1074C>A
ENST00000473610.5:n.1092C>A
ENST00000532957.5:n.2010C>A
NM_000238.3:c.1787C>A , LRG_288t1:c.1787C>A	NP_000229.1:p.Pro596His
NM_001204798.1:c.767C>A	NP_001191727.1:p.Pro256His
NM_172056.2:c.1787C>A , LRG_288t2:c.1787C>A	NP_742053.1:p.Pro596His
NM_172057.2:c.767C>A , LRG_288t3:c.767C>A	NP_742054.1:p.Pro256His
XM_011516185.1:c.1487C>A	XP_011514487.1:p.Pro496His
XM_011516186.1:c.1787C>A	XP_011514488.1:p.Pro596His
XM_011516185.2:c.1487C>A	XP_011514487.1:p.Pro496His
XM_011516186.3:c.1787C>A	XP_011514488.1:p.Pro596His
XM_017012195.1:c.1637C>A	XP_016867684.1:p.Pro546His
XM_017012196.1:c.1610C>A	XP_016867685.1:p.Pro537His
NM_000238.4:c.1787C>A MANE Select	NP_000229.1:p.Pro596His
NM_001204798.2:c.767C>A	NP_001191727.1:p.Pro256His
NM_172057.3:c.767C>A	NP_742054.1:p.Pro256His