Canonical Allele Identifier: CA369856252

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 519498
• ClinVar RCV Id: RCV000621191
• dbSNP Id: rs1057524377
• MyVariant Identifiers: chr7:g.150647358C>T (hg19) ; chr7:g.150950270C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950270C>T , CM000669.2:g.150950270C>T	GRCh38
NC_000007.13:g.150647358C>T , CM000669.1:g.150647358C>T	GRCh37
NC_000007.12:g.150278291C>T	NCBI36
NG_008916.1:g.32657G>A , LRG_288:g.32657G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1594G>A
ENST00000684241.1:n.3129G>A
ENST00000262186.10:c.2296G>A MANE Select	ENSP00000262186.5:p.Gly766Arg
ENST00000330883.9:c.1276G>A	ENSP00000328531.4:p.Gly426Arg
ENST00000262186.9:c.2296G>A	ENSP00000262186.5:p.Gly766Arg
ENST00000330883.8:c.1276G>A	ENSP00000328531.4:p.Gly426Arg
ENST00000430723.4:c.1948G>A	ENSP00000387657.4:p.Gly650Arg
ENST00000461280.1:n.1583G>A
ENST00000473610.5:n.1928G>A
ENST00000532957.5:n.2519G>A
NM_000238.3:c.2296G>A , LRG_288t1:c.2296G>A	NP_000229.1:p.Gly766Arg
NM_001204798.1:c.1276G>A	NP_001191727.1:p.Gly426Arg
NM_172056.2:c.2296G>A , LRG_288t2:c.2296G>A	NP_742053.1:p.Gly766Arg
NM_172057.2:c.1276G>A , LRG_288t3:c.1276G>A	NP_742054.1:p.Gly426Arg
XM_011516185.1:c.1996G>A	XP_011514487.1:p.Gly666Arg
XM_011516186.1:c.2296G>A	XP_011514488.1:p.Gly766Arg
XM_011516185.2:c.1996G>A	XP_011514487.1:p.Gly666Arg
XM_011516186.3:c.2296G>A	XP_011514488.1:p.Gly766Arg
XM_017012195.1:c.2146G>A	XP_016867684.1:p.Gly716Arg
XM_017012196.1:c.2119G>A	XP_016867685.1:p.Gly707Arg
NM_000238.4:c.2296G>A MANE Select	NP_000229.1:p.Gly766Arg
NM_001204798.2:c.1276G>A	NP_001191727.1:p.Gly426Arg
NM_172057.3:c.1276G>A	NP_742054.1:p.Gly426Arg