Canonical Allele Identifier: CA369862598

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958214-T-A
• MyVariant Identifiers: chr7:g.150655302T>A (hg19) ; chr7:g.150958214T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958214T>A , CM000669.2:g.150958214T>A	GRCh38
NC_000007.13:g.150655302T>A , CM000669.1:g.150655302T>A	GRCh37
NC_000007.12:g.150286235T>A	NCBI36
NG_008916.1:g.24713A>T , LRG_288:g.24713A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1594A>T
ENST00000262186.10:c.761A>T MANE Select	ENSP00000262186.5:p.His254Leu
ENST00000262186.9:c.761A>T	ENSP00000262186.5:p.His254Leu
ENST00000430723.4:c.413A>T	ENSP00000387657.4:p.His138Leu
ENST00000532957.5:n.984A>T
NM_000238.3:c.761A>T , LRG_288t1:c.761A>T	NP_000229.1:p.His254Leu
NM_172056.2:c.761A>T , LRG_288t2:c.761A>T	NP_742053.1:p.His254Leu
XM_011516185.1:c.461A>T	XP_011514487.1:p.His154Leu
XM_011516186.1:c.761A>T	XP_011514488.1:p.His254Leu
XM_011516185.2:c.461A>T	XP_011514487.1:p.His154Leu
XM_011516186.3:c.761A>T	XP_011514488.1:p.His254Leu
XM_017012195.1:c.611A>T	XP_016867684.1:p.His204Leu
XM_017012196.1:c.584A>T	XP_016867685.1:p.His195Leu
NM_000238.4:c.761A>T MANE Select	NP_000229.1:p.His254Leu