Canonical Allele Identifier: CA369863372

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2867090
• ClinVar RCV Id: RCV003648633
• gnomAD v4: 7-150958433-C-G
• MyVariant Identifiers: chr7:g.150655521C>G (hg19) ; chr7:g.150958433C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958433C>G , CM000669.2:g.150958433C>G	GRCh38
NC_000007.13:g.150655521C>G , CM000669.1:g.150655521C>G	GRCh37
NC_000007.12:g.150286454C>G	NCBI36
NG_008916.1:g.24494G>C , LRG_288:g.24494G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1375G>C
ENST00000262186.10:c.542G>C MANE Select	ENSP00000262186.5:p.Arg181Pro
ENST00000262186.9:c.542G>C	ENSP00000262186.5:p.Arg181Pro
ENST00000430723.4:c.235-41G>C	ENSP00000387657.4:n.235-41G>C
ENST00000532957.5:n.765G>C
NM_000238.3:c.542G>C , LRG_288t1:c.542G>C	NP_000229.1:p.Arg181Pro
NM_172056.2:c.542G>C , LRG_288t2:c.542G>C	NP_742053.1:p.Arg181Pro
XM_011516185.1:c.242G>C	XP_011514487.1:p.Arg81Pro
XM_011516186.1:c.542G>C	XP_011514488.1:p.Arg181Pro
XM_011516185.2:c.242G>C	XP_011514487.1:p.Arg81Pro
XM_011516186.3:c.542G>C	XP_011514488.1:p.Arg181Pro
XM_017012195.1:c.392G>C	XP_016867684.1:p.Arg131Pro
XM_017012196.1:c.365G>C	XP_016867685.1:p.Arg122Pro
NM_000238.4:c.542G>C MANE Select	NP_000229.1:p.Arg181Pro