Canonical Allele Identifier: CA005788

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200747
• ClinVar RCV Id: RCV000182034 ; RCV001385333
• dbSNP Id: rs199473039
• MyVariant Identifiers: chr7:g.150648600G>T (hg19) ; chr7:g.150951512G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951512G>T , CM000669.2:g.150951512G>T	GRCh38
NC_000007.13:g.150648600G>T , CM000669.1:g.150648600G>T	GRCh37
NC_000007.12:g.150279533G>T	NCBI36
NG_008916.1:g.31415C>A , LRG_288:g.31415C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1179C>A
ENST00000683359.1:n.5C>A
ENST00000684241.1:n.2714C>A
ENST00000262186.10:c.1881C>A MANE Select	ENSP00000262186.5:p.Phe627Leu
ENST00000330883.9:c.861C>A	ENSP00000328531.4:p.Phe287Leu
ENST00000262186.9:c.1881C>A	ENSP00000262186.5:p.Phe627Leu
ENST00000330883.8:c.861C>A	ENSP00000328531.4:p.Phe287Leu
ENST00000430723.4:c.1533C>A	ENSP00000387657.4:p.Phe511Leu
ENST00000461280.1:n.1168C>A
ENST00000473610.5:n.1186C>A
ENST00000532957.5:n.2104C>A
NM_000238.3:c.1881C>A , LRG_288t1:c.1881C>A	NP_000229.1:p.Phe627Leu
NM_001204798.1:c.861C>A	NP_001191727.1:p.Phe287Leu
NM_172056.2:c.1881C>A , LRG_288t2:c.1881C>A	NP_742053.1:p.Phe627Leu
NM_172057.2:c.861C>A , LRG_288t3:c.861C>A	NP_742054.1:p.Phe287Leu
XM_011516185.1:c.1581C>A	XP_011514487.1:p.Phe527Leu
XM_011516186.1:c.1881C>A	XP_011514488.1:p.Phe627Leu
XM_011516185.2:c.1581C>A	XP_011514487.1:p.Phe527Leu
XM_011516186.3:c.1881C>A	XP_011514488.1:p.Phe627Leu
XM_017012195.1:c.1731C>A	XP_016867684.1:p.Phe577Leu
XM_017012196.1:c.1704C>A	XP_016867685.1:p.Phe568Leu
NM_000238.4:c.1881C>A MANE Select	NP_000229.1:p.Phe627Leu
NM_001204798.2:c.861C>A	NP_001191727.1:p.Phe287Leu
NM_172057.3:c.861C>A	NP_742054.1:p.Phe287Leu