Canonical Allele Identifier: CA369859684

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150952507-T-C
• COSMIC: COSM1643281 ; COSM1643282 ; COSM4762549
• MyVariant Identifiers: chr7:g.150649595T>C (hg19) ; chr7:g.150952507T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952507T>C , CM000669.2:g.150952507T>C	GRCh38
NC_000007.13:g.150649595T>C , CM000669.1:g.150649595T>C	GRCh37
NC_000007.12:g.150280528T>C	NCBI36
NG_008916.1:g.30420A>G , LRG_288:g.30420A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.773A>G
ENST00000684116.1:n.368A>G
ENST00000684241.1:n.2308A>G
ENST00000262186.10:c.1475A>G MANE Select	ENSP00000262186.5:p.His492Arg
ENST00000330883.9:c.455A>G	ENSP00000328531.4:p.His152Arg
ENST00000262186.9:c.1475A>G	ENSP00000262186.5:p.His492Arg
ENST00000330883.8:c.455A>G	ENSP00000328531.4:p.His152Arg
ENST00000430723.4:c.1127A>G	ENSP00000387657.4:p.His376Arg
ENST00000461280.1:n.762A>G
ENST00000473610.5:n.780A>G
ENST00000532957.5:n.1698A>G
NM_000238.3:c.1475A>G , LRG_288t1:c.1475A>G	NP_000229.1:p.His492Arg
NM_001204798.1:c.455A>G	NP_001191727.1:p.His152Arg
NM_172056.2:c.1475A>G , LRG_288t2:c.1475A>G	NP_742053.1:p.His492Arg
NM_172057.2:c.455A>G , LRG_288t3:c.455A>G	NP_742054.1:p.His152Arg
XM_011516185.1:c.1175A>G	XP_011514487.1:p.His392Arg
XM_011516186.1:c.1475A>G	XP_011514488.1:p.His492Arg
XM_011516185.2:c.1175A>G	XP_011514487.1:p.His392Arg
XM_011516186.3:c.1475A>G	XP_011514488.1:p.His492Arg
XM_017012195.1:c.1325A>G	XP_016867684.1:p.His442Arg
XM_017012196.1:c.1298A>G	XP_016867685.1:p.His433Arg
NM_000238.4:c.1475A>G MANE Select	NP_000229.1:p.His492Arg
NM_001204798.2:c.455A>G	NP_001191727.1:p.His152Arg
NM_172057.3:c.455A>G	NP_742054.1:p.His152Arg