Canonical Allele Identifier: CA369862588

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150655300T>A (hg19) ; chr7:g.150958212T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958212T>A , CM000669.2:g.150958212T>A	GRCh38
NC_000007.13:g.150655300T>A , CM000669.1:g.150655300T>A	GRCh37
NC_000007.12:g.150286233T>A	NCBI36
NG_008916.1:g.24715A>T , LRG_288:g.24715A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1596A>T
ENST00000262186.10:c.763A>T MANE Select	ENSP00000262186.5:p.Ser255Cys
ENST00000262186.9:c.763A>T	ENSP00000262186.5:p.Ser255Cys
ENST00000430723.4:c.415A>T	ENSP00000387657.4:p.Ser139Cys
ENST00000532957.5:n.986A>T
NM_000238.3:c.763A>T , LRG_288t1:c.763A>T	NP_000229.1:p.Ser255Cys
NM_172056.2:c.763A>T , LRG_288t2:c.763A>T	NP_742053.1:p.Ser255Cys
XM_011516185.1:c.463A>T	XP_011514487.1:p.Ser155Cys
XM_011516186.1:c.763A>T	XP_011514488.1:p.Ser255Cys
XM_011516185.2:c.463A>T	XP_011514487.1:p.Ser155Cys
XM_011516186.3:c.763A>T	XP_011514488.1:p.Ser255Cys
XM_017012195.1:c.613A>T	XP_016867684.1:p.Ser205Cys
XM_017012196.1:c.586A>T	XP_016867685.1:p.Ser196Cys
NM_000238.4:c.763A>T MANE Select	NP_000229.1:p.Ser255Cys