Canonical Allele Identifier: CA369859845

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1484729
• ClinVar RCV Id: RCV002006018
• dbSNP Id: rs2116970672
• MyVariant Identifiers: chr7:g.150649677C>T (hg19) ; chr7:g.150952589C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952589C>T , CM000669.2:g.150952589C>T	GRCh38
NC_000007.13:g.150649677C>T , CM000669.1:g.150649677C>T	GRCh37
NC_000007.12:g.150280610C>T	NCBI36
NG_008916.1:g.30338G>A , LRG_288:g.30338G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.691G>A
ENST00000684116.1:n.286G>A
ENST00000684241.1:n.2226G>A
ENST00000262186.10:c.1393G>A MANE Select	ENSP00000262186.5:p.Val465Met
ENST00000330883.9:c.373G>A	ENSP00000328531.4:p.Val125Met
ENST00000262186.9:c.1393G>A	ENSP00000262186.5:p.Val465Met
ENST00000330883.8:c.373G>A	ENSP00000328531.4:p.Val125Met
ENST00000430723.4:c.1045G>A	ENSP00000387657.4:p.Val349Met
ENST00000461280.1:n.680G>A
ENST00000473610.5:n.698G>A
ENST00000532957.5:n.1616G>A
NM_000238.3:c.1393G>A , LRG_288t1:c.1393G>A	NP_000229.1:p.Val465Met
NM_001204798.1:c.373G>A	NP_001191727.1:p.Val125Met
NM_172056.2:c.1393G>A , LRG_288t2:c.1393G>A	NP_742053.1:p.Val465Met
NM_172057.2:c.373G>A , LRG_288t3:c.373G>A	NP_742054.1:p.Val125Met
XM_011516185.1:c.1093G>A	XP_011514487.1:p.Val365Met
XM_011516186.1:c.1393G>A	XP_011514488.1:p.Val465Met
XM_011516185.2:c.1093G>A	XP_011514487.1:p.Val365Met
XM_011516186.3:c.1393G>A	XP_011514488.1:p.Val465Met
XM_017012195.1:c.1243G>A	XP_016867684.1:p.Val415Met
XM_017012196.1:c.1216G>A	XP_016867685.1:p.Val406Met
NM_000238.4:c.1393G>A MANE Select	NP_000229.1:p.Val465Met
NM_001204798.2:c.373G>A	NP_001191727.1:p.Val125Met
NM_172057.3:c.373G>A	NP_742054.1:p.Val125Met