Canonical Allele Identifier: CA005667

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67294
• ClinVar RCV Id: RCV000058012 ; RCV001577623 ; RCV001854199
• dbSNP Id: rs199472945
• MyVariant Identifiers: chr7:g.150648638G>A (hg19) ; chr7:g.150951550G>A (hg38)
• PubMed: PMID:16414944 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951550G>A , CM000669.2:g.150951550G>A	GRCh38
NC_000007.13:g.150648638G>A , CM000669.1:g.150648638G>A	GRCh37
NC_000007.12:g.150279571G>A	NCBI36
NG_008916.1:g.31377C>T , LRG_288:g.31377C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1141C>T
ENST00000684241.1:n.2676C>T
ENST00000262186.10:c.1843C>T MANE Select	ENSP00000262186.5:p.Leu615Phe
ENST00000330883.9:c.823C>T	ENSP00000328531.4:p.Leu275Phe
ENST00000262186.9:c.1843C>T	ENSP00000262186.5:p.Leu615Phe
ENST00000330883.8:c.823C>T	ENSP00000328531.4:p.Leu275Phe
ENST00000430723.4:c.1495C>T	ENSP00000387657.4:p.Leu499Phe
ENST00000461280.1:n.1130C>T
ENST00000473610.5:n.1148C>T
ENST00000532957.5:n.2066C>T
NM_000238.3:c.1843C>T , LRG_288t1:c.1843C>T	NP_000229.1:p.Leu615Phe
NM_001204798.1:c.823C>T	NP_001191727.1:p.Leu275Phe
NM_172056.2:c.1843C>T , LRG_288t2:c.1843C>T	NP_742053.1:p.Leu615Phe
NM_172057.2:c.823C>T , LRG_288t3:c.823C>T	NP_742054.1:p.Leu275Phe
XM_011516185.1:c.1543C>T	XP_011514487.1:p.Leu515Phe
XM_011516186.1:c.1843C>T	XP_011514488.1:p.Leu615Phe
XM_011516185.2:c.1543C>T	XP_011514487.1:p.Leu515Phe
XM_011516186.3:c.1843C>T	XP_011514488.1:p.Leu615Phe
XM_017012195.1:c.1693C>T	XP_016867684.1:p.Leu565Phe
XM_017012196.1:c.1666C>T	XP_016867685.1:p.Leu556Phe
NM_000238.4:c.1843C>T MANE Select	NP_000229.1:p.Leu615Phe
NM_001204798.2:c.823C>T	NP_001191727.1:p.Leu275Phe
NM_172057.3:c.823C>T	NP_742054.1:p.Leu275Phe