Canonical Allele Identifier: CA369861863

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654561G>T (hg19) ; chr7:g.150957473G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957473G>T , CM000669.2:g.150957473G>T	GRCh38
NC_000007.13:g.150654561G>T , CM000669.1:g.150654561G>T	GRCh37
NC_000007.12:g.150285494G>T	NCBI36
NG_008916.1:g.25454C>A , LRG_288:g.25454C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1779C>A
ENST00000262186.10:c.946C>A MANE Select	ENSP00000262186.5:p.Leu316Ile
ENST00000262186.9:c.946C>A	ENSP00000262186.5:p.Leu316Ile
ENST00000430723.4:c.598C>A	ENSP00000387657.4:p.Leu200Ile
ENST00000532957.5:n.1169C>A
NM_000238.3:c.946C>A , LRG_288t1:c.946C>A	NP_000229.1:p.Leu316Ile
NM_172056.2:c.946C>A , LRG_288t2:c.946C>A	NP_742053.1:p.Leu316Ile
XM_011516185.1:c.646C>A	XP_011514487.1:p.Leu216Ile
XM_011516186.1:c.946C>A	XP_011514488.1:p.Leu316Ile
XM_011516185.2:c.646C>A	XP_011514487.1:p.Leu216Ile
XM_011516186.3:c.946C>A	XP_011514488.1:p.Leu316Ile
XM_017012195.1:c.796C>A	XP_016867684.1:p.Leu266Ile
XM_017012196.1:c.769C>A	XP_016867685.1:p.Leu257Ile
NM_000238.4:c.946C>A MANE Select	NP_000229.1:p.Leu316Ile