Canonical Allele Identifier: CA369862918

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2095744
• ClinVar RCV Id: RCV003012490
• gnomAD v4: 7-150958313-T-C
• MyVariant Identifiers: chr7:g.150655401T>C (hg19) ; chr7:g.150958313T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958313T>C , CM000669.2:g.150958313T>C	GRCh38
NC_000007.13:g.150655401T>C , CM000669.1:g.150655401T>C	GRCh37
NC_000007.12:g.150286334T>C	NCBI36
NG_008916.1:g.24614A>G , LRG_288:g.24614A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1495A>G
ENST00000262186.10:c.662A>G MANE Select	ENSP00000262186.5:p.His221Arg
ENST00000262186.9:c.662A>G	ENSP00000262186.5:p.His221Arg
ENST00000430723.4:c.314A>G	ENSP00000387657.4:p.His105Arg
ENST00000532957.5:n.885A>G
NM_000238.3:c.662A>G , LRG_288t1:c.662A>G	NP_000229.1:p.His221Arg
NM_172056.2:c.662A>G , LRG_288t2:c.662A>G	NP_742053.1:p.His221Arg
XM_011516185.1:c.362A>G	XP_011514487.1:p.His121Arg
XM_011516186.1:c.662A>G	XP_011514488.1:p.His221Arg
XM_011516185.2:c.362A>G	XP_011514487.1:p.His121Arg
XM_011516186.3:c.662A>G	XP_011514488.1:p.His221Arg
XM_017012195.1:c.512A>G	XP_016867684.1:p.His171Arg
XM_017012196.1:c.485A>G	XP_016867685.1:p.His162Arg
NM_000238.4:c.662A>G MANE Select	NP_000229.1:p.His221Arg