Canonical Allele Identifier: CA369863370

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958433-C-A
• MyVariant Identifiers: chr7:g.150655521C>A (hg19) ; chr7:g.150958433C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1375G>T
ENST00000262186.10:c.542G>T MANE Select	ENSP00000262186.5:p.Arg181Leu
ENST00000262186.9:c.542G>T	ENSP00000262186.5:p.Arg181Leu
ENST00000430723.4:c.235-41G>T	ENSP00000387657.4:n.235-41G>T
ENST00000532957.5:n.765G>T
NM_000238.3:c.542G>T , LRG_288t1:c.542G>T	NP_000229.1:p.Arg181Leu
NM_172056.2:c.542G>T , LRG_288t2:c.542G>T	NP_742053.1:p.Arg181Leu
XM_011516185.1:c.242G>T	XP_011514487.1:p.Arg81Leu
XM_011516186.1:c.542G>T	XP_011514488.1:p.Arg181Leu
XM_011516185.2:c.242G>T	XP_011514487.1:p.Arg81Leu
XM_011516186.3:c.542G>T	XP_011514488.1:p.Arg181Leu
XM_017012195.1:c.392G>T	XP_016867684.1:p.Arg131Leu
XM_017012196.1:c.365G>T	XP_016867685.1:p.Arg122Leu
NM_000238.4:c.542G>T MANE Select	NP_000229.1:p.Arg181Leu