Canonical Allele Identifier: CA369861564

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1038936
• ClinVar RCV Id: RCV001342318
• dbSNP Id: rs1801408390
• MyVariant Identifiers: chr7:g.150654452G>C (hg19) ; chr7:g.150957364G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957364G>C , CM000669.2:g.150957364G>C	GRCh38
NC_000007.13:g.150654452G>C , CM000669.1:g.150654452G>C	GRCh37
NC_000007.12:g.150285385G>C	NCBI36
NG_008916.1:g.25563C>G , LRG_288:g.25563C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1888C>G
ENST00000262186.10:c.1055C>G MANE Select	ENSP00000262186.5:p.Pro352Arg
ENST00000262186.9:c.1055C>G	ENSP00000262186.5:p.Pro352Arg
ENST00000430723.4:c.707C>G	ENSP00000387657.4:p.Pro236Arg
ENST00000532957.5:n.1278C>G
NM_000238.3:c.1055C>G , LRG_288t1:c.1055C>G	NP_000229.1:p.Pro352Arg
NM_172056.2:c.1055C>G , LRG_288t2:c.1055C>G	NP_742053.1:p.Pro352Arg
XM_011516185.1:c.755C>G	XP_011514487.1:p.Pro252Arg
XM_011516186.1:c.1055C>G	XP_011514488.1:p.Pro352Arg
XM_011516185.2:c.755C>G	XP_011514487.1:p.Pro252Arg
XM_011516186.3:c.1055C>G	XP_011514488.1:p.Pro352Arg
XM_017012195.1:c.905C>G	XP_016867684.1:p.Pro302Arg
XM_017012196.1:c.878C>G	XP_016867685.1:p.Pro293Arg
NM_000238.4:c.1055C>G MANE Select	NP_000229.1:p.Pro352Arg