Canonical Allele Identifier: CA369861593

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654465A>T (hg19) ; chr7:g.150957377A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957377A>T , CM000669.2:g.150957377A>T	GRCh38
NC_000007.13:g.150654465A>T , CM000669.1:g.150654465A>T	GRCh37
NC_000007.12:g.150285398A>T	NCBI36
NG_008916.1:g.25550T>A , LRG_288:g.25550T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1875T>A
ENST00000262186.10:c.1042T>A MANE Select	ENSP00000262186.5:p.Phe348Ile
ENST00000262186.9:c.1042T>A	ENSP00000262186.5:p.Phe348Ile
ENST00000430723.4:c.694T>A	ENSP00000387657.4:p.Phe232Ile
ENST00000532957.5:n.1265T>A
NM_000238.3:c.1042T>A , LRG_288t1:c.1042T>A	NP_000229.1:p.Phe348Ile
NM_172056.2:c.1042T>A , LRG_288t2:c.1042T>A	NP_742053.1:p.Phe348Ile
XM_011516185.1:c.742T>A	XP_011514487.1:p.Phe248Ile
XM_011516186.1:c.1042T>A	XP_011514488.1:p.Phe348Ile
XM_011516185.2:c.742T>A	XP_011514487.1:p.Phe248Ile
XM_011516186.3:c.1042T>A	XP_011514488.1:p.Phe348Ile
XM_017012195.1:c.892T>A	XP_016867684.1:p.Phe298Ile
XM_017012196.1:c.865T>A	XP_016867685.1:p.Phe289Ile
NM_000238.4:c.1042T>A MANE Select	NP_000229.1:p.Phe348Ile