Canonical Allele Identifier: CA369862376

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958157-C-A
• MyVariant Identifiers: chr7:g.150655245C>A (hg19) ; chr7:g.150958157C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958157C>A , CM000669.2:g.150958157C>A	GRCh38
NC_000007.13:g.150655245C>A , CM000669.1:g.150655245C>A	GRCh37
NC_000007.12:g.150286178C>A	NCBI36
NG_008916.1:g.24770G>T , LRG_288:g.24770G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1651G>T
ENST00000262186.10:c.818G>T MANE Select	ENSP00000262186.5:p.Arg273Leu
ENST00000262186.9:c.818G>T	ENSP00000262186.5:p.Arg273Leu
ENST00000430723.4:c.470G>T	ENSP00000387657.4:p.Arg157Leu
ENST00000532957.5:n.1041G>T
NM_000238.3:c.818G>T , LRG_288t1:c.818G>T	NP_000229.1:p.Arg273Leu
NM_172056.2:c.818G>T , LRG_288t2:c.818G>T	NP_742053.1:p.Arg273Leu
XM_011516185.1:c.518G>T	XP_011514487.1:p.Arg173Leu
XM_011516186.1:c.818G>T	XP_011514488.1:p.Arg273Leu
XM_011516185.2:c.518G>T	XP_011514487.1:p.Arg173Leu
XM_011516186.3:c.818G>T	XP_011514488.1:p.Arg273Leu
XM_017012195.1:c.668G>T	XP_016867684.1:p.Arg223Leu
XM_017012196.1:c.641G>T	XP_016867685.1:p.Arg214Leu
NM_000238.4:c.818G>T MANE Select	NP_000229.1:p.Arg273Leu