Canonical Allele Identifier: CA369861929

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654581T>A (hg19) ; chr7:g.150957493T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957493T>A , CM000669.2:g.150957493T>A	GRCh38
NC_000007.13:g.150654581T>A , CM000669.1:g.150654581T>A	GRCh37
NC_000007.12:g.150285514T>A	NCBI36
NG_008916.1:g.25434A>T , LRG_288:g.25434A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1759A>T
ENST00000262186.10:c.926A>T MANE Select	ENSP00000262186.5:p.His309Leu
ENST00000262186.9:c.926A>T	ENSP00000262186.5:p.His309Leu
ENST00000430723.4:c.578A>T	ENSP00000387657.4:p.His193Leu
ENST00000532957.5:n.1149A>T
NM_000238.3:c.926A>T , LRG_288t1:c.926A>T	NP_000229.1:p.His309Leu
NM_172056.2:c.926A>T , LRG_288t2:c.926A>T	NP_742053.1:p.His309Leu
XM_011516185.1:c.626A>T	XP_011514487.1:p.His209Leu
XM_011516186.1:c.926A>T	XP_011514488.1:p.His309Leu
XM_011516185.2:c.626A>T	XP_011514487.1:p.His209Leu
XM_011516186.3:c.926A>T	XP_011514488.1:p.His309Leu
XM_017012195.1:c.776A>T	XP_016867684.1:p.His259Leu
XM_017012196.1:c.749A>T	XP_016867685.1:p.His250Leu
NM_000238.4:c.926A>T MANE Select	NP_000229.1:p.His309Leu