Canonical Allele Identifier: CA369862602

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958215-G-A
• MyVariant Identifiers: chr7:g.150655303G>A (hg19) ; chr7:g.150958215G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958215G>A , CM000669.2:g.150958215G>A	GRCh38
NC_000007.13:g.150655303G>A , CM000669.1:g.150655303G>A	GRCh37
NC_000007.12:g.150286236G>A	NCBI36
NG_008916.1:g.24712C>T , LRG_288:g.24712C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1593C>T
ENST00000262186.10:c.760C>T MANE Select	ENSP00000262186.5:p.His254Tyr
ENST00000262186.9:c.760C>T	ENSP00000262186.5:p.His254Tyr
ENST00000430723.4:c.412C>T	ENSP00000387657.4:p.His138Tyr
ENST00000532957.5:n.983C>T
NM_000238.3:c.760C>T , LRG_288t1:c.760C>T	NP_000229.1:p.His254Tyr
NM_172056.2:c.760C>T , LRG_288t2:c.760C>T	NP_742053.1:p.His254Tyr
XM_011516185.1:c.460C>T	XP_011514487.1:p.His154Tyr
XM_011516186.1:c.760C>T	XP_011514488.1:p.His254Tyr
XM_011516185.2:c.460C>T	XP_011514487.1:p.His154Tyr
XM_011516186.3:c.760C>T	XP_011514488.1:p.His254Tyr
XM_017012195.1:c.610C>T	XP_016867684.1:p.His204Tyr
XM_017012196.1:c.583C>T	XP_016867685.1:p.His195Tyr
NM_000238.4:c.760C>T MANE Select	NP_000229.1:p.His254Tyr