Canonical Allele Identifier: CA369862367

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2849272
• ClinVar RCV Id: RCV003648481
• gnomAD v4: 7-150958154-T-C
• MyVariant Identifiers: chr7:g.150655242T>C (hg19) ; chr7:g.150958154T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958154T>C , CM000669.2:g.150958154T>C	GRCh38
NC_000007.13:g.150655242T>C , CM000669.1:g.150655242T>C	GRCh37
NC_000007.12:g.150286175T>C	NCBI36
NG_008916.1:g.24773A>G , LRG_288:g.24773A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1654A>G
ENST00000262186.10:c.821A>G MANE Select	ENSP00000262186.5:p.Glu274Gly
ENST00000262186.9:c.821A>G	ENSP00000262186.5:p.Glu274Gly
ENST00000430723.4:c.473A>G	ENSP00000387657.4:p.Glu158Gly
ENST00000532957.5:n.1044A>G
NM_000238.3:c.821A>G , LRG_288t1:c.821A>G	NP_000229.1:p.Glu274Gly
NM_172056.2:c.821A>G , LRG_288t2:c.821A>G	NP_742053.1:p.Glu274Gly
XM_011516185.1:c.521A>G	XP_011514487.1:p.Glu174Gly
XM_011516186.1:c.821A>G	XP_011514488.1:p.Glu274Gly
XM_011516185.2:c.521A>G	XP_011514487.1:p.Glu174Gly
XM_011516186.3:c.821A>G	XP_011514488.1:p.Glu274Gly
XM_017012195.1:c.671A>G	XP_016867684.1:p.Glu224Gly
XM_017012196.1:c.644A>G	XP_016867685.1:p.Glu215Gly
NM_000238.4:c.821A>G MANE Select	NP_000229.1:p.Glu274Gly