Canonical Allele Identifier: CA369862868

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2418931
• ClinVar RCV Id: RCV003112175
• gnomAD v4: 7-150958299-C-G
• MyVariant Identifiers: chr7:g.150655387C>G (hg19) ; chr7:g.150958299C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958299C>G , CM000669.2:g.150958299C>G	GRCh38
NC_000007.13:g.150655387C>G , CM000669.1:g.150655387C>G	GRCh37
NC_000007.12:g.150286320C>G	NCBI36
NG_008916.1:g.24628G>C , LRG_288:g.24628G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1509G>C
ENST00000262186.10:c.676G>C MANE Select	ENSP00000262186.5:p.Gly226Arg
ENST00000262186.9:c.676G>C	ENSP00000262186.5:p.Gly226Arg
ENST00000430723.4:c.328G>C	ENSP00000387657.4:p.Gly110Arg
ENST00000532957.5:n.899G>C
NM_000238.3:c.676G>C , LRG_288t1:c.676G>C	NP_000229.1:p.Gly226Arg
NM_172056.2:c.676G>C , LRG_288t2:c.676G>C	NP_742053.1:p.Gly226Arg
XM_011516185.1:c.376G>C	XP_011514487.1:p.Gly126Arg
XM_011516186.1:c.676G>C	XP_011514488.1:p.Gly226Arg
XM_011516185.2:c.376G>C	XP_011514487.1:p.Gly126Arg
XM_011516186.3:c.676G>C	XP_011514488.1:p.Gly226Arg
XM_017012195.1:c.526G>C	XP_016867684.1:p.Gly176Arg
XM_017012196.1:c.499G>C	XP_016867685.1:p.Gly167Arg
NM_000238.4:c.676G>C MANE Select	NP_000229.1:p.Gly226Arg